NM_058179.4(PSAT1):c.55C>G (p.His19Asp) AND not provided

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001254430.1

Allele description [Variation Report for NM_058179.4(PSAT1):c.55C>G (p.His19Asp)]

NM_058179.4(PSAT1):c.55C>G (p.His19Asp)

Gene:
PSAT1:phosphoserine aminotransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q21.2
Genomic location:
Preferred name:
NM_058179.4(PSAT1):c.55C>G (p.His19Asp)
HGVS:
  • NC_000009.12:g.78297265C>G
  • NG_012165.1:g.5123C>G
  • NM_021154.5:c.55C>G
  • NM_058179.4:c.55C>GMANE SELECT
  • NP_066977.1:p.His19Asp
  • NP_478059.1:p.His19Asp
  • NC_000009.11:g.80912181C>G
  • NM_058179.3:c.55C>G
Protein change:
H19D
Links:
dbSNP: rs1057515669
NCBI 1000 Genomes Browser:
rs1057515669
Molecular consequence:
  • NM_021154.5:c.55C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058179.4:c.55C>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
  • function_uncertain_variant [Sequence Ontology: SO:0002220] - Comment(s)
  • mutation affecting coding sequence [Sequence Ontology: SO:1000054] - Comment(s)

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001430409Dudley Research Group,Pacific Northwest Research Instituteno assertion providednot providedunknown, not applicableresearch, in vivo

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vivo
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.

Sirr A, Lo RS, Cromie GA, Scott AC, Ashmead J, Heyesus M, Dudley AM.

J Inherit Metab Dis. 2020 Jul;43(4):758-769. doi: 10.1002/jimd.12227. Epub 2020 Feb 27.

PubMed [citation]
PMID:
32077105
PMCID:
PMC7444316

Details of each submission

From Dudley Research Group,Pacific Northwest Research Institute, SCV001430409.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
2not providednot providednot providednot providedin vivo PubMed (1)

Description

"Impaired in assay relative to wildtype, but less than all known disease alleles."
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided
2not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 22, 2021

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