NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 23, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001001070.1

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001158200ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Feb 23, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001158200.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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