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NM_000518.5(HBB):c.335T>C (p.Val112Ala)

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Interpretation:
other​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 20, 2016)
Last evaluated:
Jul 20, 2016
Accession:
VCV000015357.2
Variation ID:
15357
Description:
single nucleotide variant
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NM_000518.5(HBB):c.335T>C (p.Val112Ala)

Allele ID
30396
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.4
Genomic location
11: 5225707 (GRCh38) GRCh38 UCSC
11: 5246937 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.5225707A>G
NC_000011.9:g.5246937A>G
NG_000007.3:g.71909T>C
... more HGVS
Protein change
V112A
Other names
V111A
Canonical SPDI
NC_000011.10:5225706:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA125176
UniProtKB: P68871#VAR_003034
OMIM: 141900.0270
dbSNP: rs35871407
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
HEMOGLOBIN STANMORE
other 1 no assertion criteria provided Jul 20, 2016 RCV000016607.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HBB - - GRCh38
GRCh37
45 1290
LOC107133510 - - - GRCh38 - 1223
LOC110006319 - - - GRCh38 - 573

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
other
(Jul 20, 2016)
no assertion criteria provided
Method: literature only
HEMOGLOBIN STANMORE
Allele origin: germline
OMIM
Accession: SCV000036876.3
Submitted: (Jul 20, 2016)
Evidence details
Publications
Como, P. F., Hocking, D., Trent, R.  (more...)

Functional evidence

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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

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Title Author Journal Year Link
Como, P. F., Hocking, D., Trent, R. A., Wilkinson, T., Wylie, B. R., Bruce, D., Kronenberg, H. Hb Geelong (beta139 asn-to-asp) and Hb Stanmore (beta111 val-to-ala): two new unstable haemoglobins which illustrate the problem of distinguishing a haemoglobin with a thalassaemic phenotype from one inherited along with beta thalassaemia in either cis or trans. (Abstract) Proceedings of the Haematology Society, Australia, Perth, West Australia, October 1984. - - - -

Text-mined citations for rs35871407...

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These 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 Sep 29, 2021