NM_006996.2(SLC19A2):c.1074G>A (p.Trp358Ter)

NM_006996.2(SLC19A2):c.1074G>A (p.Trp358Ter)

Variant type:
single nucleotide variant
Cytogenetic location:
1q24
Genomic location:
  • Chr1:169468793 (on Assembly GRCh38)
  • Chr1:169438031 (on Assembly GRCh37)
Protein change:
W358*
HGVS:
  • NG_008255.1:g.22178G>A
  • NM_006996.2:c.1074G>A
  • NC_000001.11:g.169468793C>T (GRCh38)
  • NP_008927.1:p.Trp358Ter
  • NC_000001.10:g.169438031C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs74315375
Molecular consequence:
NM_006996.2:c.1074G>A: nonsense [Sequence Ontology SO:0001587]

Clinical significance

NM_006996.2(SLC19A2):c.1074G>A (p.Trp358Ter)

Clinical significance:
Pathogenic
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
1
Condition(s)
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness[MedGen - Orphanet - OMIM]
See supporting ClinVar records

1 Affected gene

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(May 25, 2012)
no assertion criteria providedliterature only
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness[MedGen | Orphanet | OMIM]
germlinePubMed (1)
[See all records that cite this PMID]
OMIM

(Dec 30, 2010)

SCV000026509
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedMegaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (not provided)not providednot providedPubMedIn a girl with TRMA (249270), Scharfe et al. (2000) reported a G-to-A transition at nucleotide 1074 in exon 4 of the SLC19A2 gene, resulting in a trp3…Full description

Last Updated: Jul 1, 2015