NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) AND SWANN BLOOD GROUP ANTIGEN

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2000)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000019360.28

Allele description [Variation Report for NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)]

NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)

Gene:
SLC4A1:solute carrier family 4 member 1 (Diego blood group) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)
HGVS:
  • NC_000017.11:g.44254616C>T
  • NG_007498.1:g.18519G>A
  • NM_000342.4:c.1937G>AMANE SELECT
  • NP_000333.1:p.Arg646Gln
  • LRG_803t1:c.1937G>A
  • LRG_803:g.18519G>A
  • LRG_803p1:p.Arg646Gln
  • NC_000017.10:g.42331984C>T
  • NM_000342.3:c.1937G>A
  • P02730:p.Arg646Gln
Protein change:
R646Q; ARG646GLN
Links:
UniProtKB: P02730#VAR_013800; OMIM: 109270.0030; dbSNP: rs121912757
NCBI 1000 Genomes Browser:
rs121912757
Molecular consequence:
  • NM_000342.4:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
SWANN BLOOD GROUP ANTIGEN
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039650OMIMno assertion criteria providedPathogenic
(Jan 1, 2000)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Distinctive Swann blood group genotypes: molecular investigations.

Zelinski T, Rusnak A, McManus K, Coghlan G.

Vox Sang. 2000;79(4):215-8.

PubMed [citation]
PMID:
11155072

Details of each submission

From OMIM, SCV000039650.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Zelinski et al. (2000) demonstrated that DNA from Sw(a+) (601550) individuals showed one or the other of 2 mutations in exon 16 of the SLC4A1 gene, CGG to CAG or CGG to TGG, resulting in an arg646-to-gln or arg646-to-trp substitution, respectively.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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