This variant is denoted TP53 c.797G>A at the cDNA level, p.Gly266Glu (G266E) at the protein level, and results in the change of a Glycine to a Glutamic Acid (GGA>GAA). This variant has been observed in at least one individual with childhood-onset medulloblastoma and another with personal/family reportedly suggestive of Li-Fraumeni syndrome (Bougeard 2008, Rausch 2012). Functional studies have consistently found that TP53 Gly266Glu is not capable of transactivating typical p53 response elements, leads to a loss of growth suppression activity, and does not exhibit a dominant-negative effect (Campomenosi 2001, Monti 2002, Grochova 2008, Slovackova 2010, Kotler 2018). This variant is reported as having non-functional transactivation in the International Agency for Research on Cancer TP53 database based on functional assays by Kato et al. (2003). TP53 Gly266Glu was not observed in large population cohorts (Lek 2016). This variant is located in the DNA-binding domain (Bode 2004). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on the currently available information, we consider TP53 Gly266Glu to be a likely pathogenic variant.
ClinVar Genomic variation as it relates to human health
Help
- Interpretation:
-
Pathogenic/Likely pathogenic
- Review status:
- criteria provided, multiple submitters, no conflicts
- Submissions:
- 28
- First in ClinVar:
- Dec 15, 2014
- Most recent Submission:
- Feb 7, 2023
- Last evaluated:
- Nov 1, 2022
- Accession:
- VCV000161516.16
- Variation ID:
- 161516
- Description:
- single nucleotide variant
Help
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)
- Allele ID
- 171614
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 17p13.1
- Genomic location
- 17: 7673823 (GRCh38) GRCh38 UCSC
- 17: 7577141 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000546.6:c.797G>A MANE Select NP_000537.3:p.Gly266Glu missense NM_001126112.3:c.797G>A NP_001119584.1:p.Gly266Glu missense NM_001126113.3:c.797G>A NP_001119585.1:p.Gly266Glu missense NM_001126114.2:c.797G>A NM_001126114.3:c.797G>A NP_001119586.1:p.Gly266Glu missense NM_001126115.2:c.401G>A NP_001119587.1:p.Gly134Glu missense NM_001126116.2:c.401G>A NP_001119588.1:p.Gly134Glu missense NM_001126117.2:c.401G>A NP_001119589.1:p.Gly134Glu missense NM_001126118.2:c.680G>A NP_001119590.1:p.Gly227Glu missense NM_001276695.3:c.680G>A NP_001263624.1:p.Gly227Glu missense NM_001276696.3:c.680G>A NP_001263625.1:p.Gly227Glu missense NM_001276697.3:c.320G>A NP_001263626.1:p.Gly107Glu missense NM_001276698.3:c.320G>A NP_001263627.1:p.Gly107Glu missense NM_001276699.3:c.320G>A NP_001263628.1:p.Gly107Glu missense NM_001276760.3:c.680G>A NP_001263689.1:p.Gly227Glu missense NM_001276761.3:c.680G>A NP_001263690.1:p.Gly227Glu missense NC_000017.11:g.7673823C>T NC_000017.10:g.7577141C>T NG_017013.2:g.18728G>A LRG_321:g.18728G>A LRG_321t1:c.797G>A LRG_321p1:p.Gly266Glu LRG_321t5:c.401G>A LRG_321p5:p.Gly134Glu - Protein change
- G134E, G227E, G266E, G107E
- Other names
- NP_001119586.1:p.Gly266Glu
- Canonical SPDI
- NC_000017.11:7673822:C:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA000421
- dbSNP: rs193920774
- VarSome
Help
Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic/Likely pathogenic | 2 | criteria provided, multiple submitters, no conflicts | Jun 18, 2022 | RCV000492556.4 | |
| Pathogenic/Likely pathogenic | 2 | criteria provided, multiple submitters, no conflicts | Nov 1, 2022 | RCV000709403.7 | |
| Likely pathogenic | 1 | criteria provided, single submitter | Jan 7, 2019 | RCV000255749.3 | |
| Likely pathogenic | 2 | criteria provided, single submitter | May 28, 2019 | RCV000421625.2 | |
| Likely pathogenic | 1 | criteria provided, single submitter | Jun 18, 2022 | RCV002288661.1 | |
| Uncertain significance | 1 | no assertion criteria provided | - | RCV000149050.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000418383.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000424505.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000429269.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000422957.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000429720.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000423995.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000436020.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000430374.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000418979.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000433054.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000431935.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000440516.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000434273.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000445061.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000441726.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000444033.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000444063.1 | |
| Likely pathogenic | 1 | no assertion criteria provided | Dec 1, 2018 | RCV000785456.2 | |
| Pathogenic | 1 | no assertion criteria provided | Jun 15, 2021 | RCV002464126.1 |
Help
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation viewer | Related variants | ||
|---|---|---|---|---|---|---|
| HI score Help | TS score Help | Within gene | All | |||
| TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2836 | 2931 | |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Likely pathogenic
(Jan 07, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000322130.7
First in ClinVar: Oct 09, 2016 Last updated: Apr 17, 2019 |
Comment:
This variant is denoted TP53 c.797G>A at the cDNA level, p.Gly266Glu (G266E) at the protein level, and results in the change of a Glycine to … (more)
This variant is denoted TP53 c.797G>A at the cDNA level, p.Gly266Glu (G266E) at the protein level, and results in the change of a Glycine to a Glutamic Acid (GGA>GAA). This variant has been observed in at least one individual with childhood-onset medulloblastoma and another with personal/family reportedly suggestive of Li-Fraumeni syndrome (Bougeard 2008, Rausch 2012). Functional studies have consistently found that TP53 Gly266Glu is not capable of transactivating typical p53 response elements, leads to a loss of growth suppression activity, and does not exhibit a dominant-negative effect (Campomenosi 2001, Monti 2002, Grochova 2008, Slovackova 2010, Kotler 2018). This variant is reported as having non-functional transactivation in the International Agency for Research on Cancer TP53 database based on functional assays by Kato et al. (2003). TP53 Gly266Glu was not observed in large population cohorts (Lek 2016). This variant is located in the DNA-binding domain (Bode 2004). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on the currently available information, we consider TP53 Gly266Glu to be a likely pathogenic variant. (less)
|
|
|
Likely pathogenic
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Squamous cell carcinoma of the head and neck
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001140251.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
|
|
|
Pathogenic
(Feb 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000581084.5
First in ClinVar: Jul 01, 2017 Last updated: Nov 29, 2022 |
Comment:
The p.G266E pathogenic mutation (also known as c.797G>A), located in coding exon 7 of the TP53 gene, results from a G to A substitution at … (more)
The p.G266E pathogenic mutation (also known as c.797G>A), located in coding exon 7 of the TP53 gene, results from a G to A substitution at nucleotide position 797. The glycine at codon 266 is replaced by glutamic acid, an amino acid with similar properties. This variant has been identified as a somatic mutation in tumors 91 times, and as a germline alteration in one individual with medulloblastoma (Petitjean A et al. IARC TP53 database [version R18, April 2016]. Hum. Mutat. 2007 Jun;28(6):622-9; Kool M et al. Cancer Cell. 2014 Mar; 25(3):393-405). This variant is located in the DNA binding domain of the TP53 protein and is reported to have loss of transactivation capacity in yeast based functional studies (IARC TP53 database; Kato S et al. Proc. Natl. Acad. Sci. U.S.A. 2003 Jul 8;100(14):8424-9; Campomenosi P et al. Oncogene. 2001 Jun; 20(27):3573-9). Studies conducted in human cell lines indicate this alteration is deficient at growth suppression (Kotler E et al. Mol. Cell 2018 Jul;71:178-190.e8; Giacomelli AO et al. Nat. Genet. 2018 Oct;50:1381-1387). Based on internal structural analysis, this variant is anticipated to result in a significant decrease in structural stability (Cho Y et al. Science 1994 Jul;265(5170):346-55). Based on the available evidence, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
|
|
|
Likely pathogenic
(Jul 02, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Li-Fraumeni syndrome
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV000839111.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(Nov 01, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Li-Fraumeni syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000931773.5
First in ClinVar: Aug 14, 2019 Last updated: Feb 07, 2023 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 266 of the TP53 protein … (more)
This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 266 of the TP53 protein (p.Gly266Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of Li-Fraumeni syndrome (PMID: 18511570, 24651015; external communication). ClinVar contains an entry for this variant (Variation ID: 161516). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 12826609, 29979965, 30224644) indicates that this missense variant is expected to disrupt TP53 function. Experimental studies have shown that this missense change affects TP53 function (PMID: 11429705, 12826609, 12917626, 17724467, 20505364, 29979965, 30224644). This variant disrupts the p.Gly266 amino acid residue in TP53. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12826609, 16827139, 20407015, 27523101, 29979965, 30224644; externalcommunication). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
|
|
|
Likely pathogenic
(Jun 18, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV002582355.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
|
|
|
Likely pathogenic
(Jun 18, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Li-Fraumeni syndrome 1
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV002583016.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
|
|
|
Unknown
(-)
|
no assertion criteria provided
Method: not provided
|
Malignant tumor of prostate
Affected status: not provided
Allele origin:
somatic
|
Science for Life laboratory, Karolinska Institutet
Accession: SCV000088692.1
First in ClinVar: Dec 15, 2014 Last updated: Dec 15, 2014
Comment:
TumorID:SWE-10
|
Comment:
Converted during submission to Uncertain significance.
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Uterine carcinosarcoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508298.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
B-cell chronic lymphocytic leukemia
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508299.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Neoplasm of the large intestine
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508297.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Pancreatic adenocarcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508302.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Squamous cell carcinoma of the skin
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508303.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Ovarian serous cystadenocarcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508300.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Glioblastoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508301.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Hepatocellular carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508305.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Carcinoma of esophagus
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508304.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
None
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508309.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Squamous cell lung carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508311.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Malignant melanoma of skin
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508306.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Small cell lung carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508307.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
None
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508308.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Transitional cell carcinoma of the bladder
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508310.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Neoplasm of brain
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508312.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Breast neoplasm
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508313.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Malignant neoplasm of body of uterus
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000508314.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
|
Likely pathogenic
(Dec 01, 2018)
|
no assertion criteria provided
Method: research
|
Neoplasm of ovary
Affected status: yes
Allele origin:
somatic
|
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
Accession: SCV000924028.1
First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019 |
|
|
|
Pathogenic
(Jun 15, 2021)
|
no assertion criteria provided
Method: research
|
Lung cancer
Affected status: yes
Allele origin:
somatic
|
Arun Kumar Laboratory, Indian Institute of Science
Accession: SCV002759792.1
First in ClinVar: Dec 11, 2022 Last updated: Dec 11, 2022 |
Age: 34-83 years
Sex: mixed
Ethnicity/Population group: South East Asian
Geographic origin: India
|
Functional evidence
Help| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Mutational processes shape the landscape of TP53 mutations in human cancer. | Giacomelli AO | Nature genetics | 2018 | PMID: 30224644 |
| A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation. | Kotler E | Molecular cell | 2018 | PMID: 29979965 |
| Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient. | Guidi M | Future oncology (London, England) | 2017 | PMID: 27523101 |
| Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | Chang MT | Nature biotechnology | 2016 | PMID: 26619011 |
| Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition. | Kool M | Cancer cell | 2014 | PMID: 24651015 |
| The mitochondrial and autosomal mutation landscapes of prostate cancer. | Lindberg J | European urology | 2013 | PMID: 23265383 |
| p53 mutants induce transcription of NF-κB2 in H1299 cells through CBP and STAT binding on the NF-κB2 promoter and gain of function activity. | Vaughan CA | Archives of biochemistry and biophysics | 2012 | PMID: 22198284 |
| Transactivation by temperature-dependent p53 mutants in yeast and human cells. | Slovackova J | Cell cycle (Georgetown, Tex.) | 2010 | PMID: 20505364 |
| Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. | Jordan JJ | Molecular cancer research : MCR | 2010 | PMID: 20407015 |
| Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. | Bougeard G | Journal of medical genetics | 2008 | PMID: 18511570 |
| Analysis of transactivation capability and conformation of p53 temperature-dependent mutants and their reactivation by amifostine in yeast. | Grochova D | Oncogene | 2008 | PMID: 17724467 |
| P53 mutants suppress ZBP-89 function. | Okada M | Anticancer research | 2006 | PMID: 16827139 |
| Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay. | Monti P | Oncogene | 2003 | PMID: 12917626 |
| Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. | Kato S | Proceedings of the National Academy of Sciences of the United States of America | 2003 | PMID: 12826609 |
| p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements. | Campomenosi P | Oncogene | 2001 | PMID: 11429705 |
| http://docm.genome.wustl.edu/variants/ENST00000269305:c.797G>A | - | - | - | - |
Text-mined citations for rs193920774...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Jun 04, 2023