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NM_000518.5(HBB):c.350A>G (p.His117Arg)

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Interpretation:
other​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jul 20, 2016)
Last evaluated:
Dec 12, 2017
Accession:
VCV000015303.2
Variation ID:
15303
Description:
single nucleotide variant
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NM_000518.5(HBB):c.350A>G (p.His117Arg)

Allele ID
30342
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.4
Genomic location
11: 5225692 (GRCh38) GRCh38 UCSC
11: 5246922 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1232:g.6380A>G
LRG_1232t1:c.350A>G LRG_1232p1:p.His117Arg
NC_000011.10:g.5225692T>C
... more HGVS
Protein change
H117R
Other names
-
Canonical SPDI
NC_000011.10:5225691:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs33978082
ClinGen: CA125090
OMIM: 141900.0213
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
HEMOGLOBIN P
other 1 no assertion criteria provided Dec 12, 2017 RCV000016538.5
HEMOGLOBIN P (GALVESTON)
other 1 no assertion criteria provided Dec 12, 2017 RCV000016539.5
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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
(Dec 12, 2017)
no assertion criteria provided
Method: literature only
HEMOGLOBIN P
Allele origin: germline
OMIM
Accession: SCV000036806.5
Submitted: (Jul 20, 2016)
Evidence details
Publications
PubMed (3)
other
(Dec 12, 2017)
no assertion criteria provided
Method: literature only
HEMOGLOBIN P (GALVESTON)
Allele origin: germline
OMIM
Accession: SCV000036807.5
Submitted: (Jul 20, 2016)
Evidence details
Publications
PubMed (3)

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
Hemoglobin Cowtown (beta 146 HC3 His-Leu): a mutant with high oxygen affinity and erythrocytosis. Schneider RG American journal of clinical pathology 1979 PMID: 42311
Hemoglobin Z├╝rich. A third family presenting with hemolytic reactions to sulfonamides. Dickerman JD The American journal of medicine 1973 PMID: 4749206
HAEMOGLOBINS N AND P IN ITALIAN FAMILIES. SILVESTRONI E Nature 1963 PMID: 14109943

Text-mined citations for rs33978082...

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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