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NM_020949.2(SLC7A14):c.988G>A (p.Gly330Arg)

Variation ID: Help
126446
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Mar 27, 2014
Number of submission(s):
1
Condition(s):
Retinitis pigmentosa 68[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_020949.2(SLC7A14):c.988G>A (p.Gly330Arg)

Allele ID:
131974
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.2
Genomic location:
  • Chr3: 170483441 (on Assembly GRCh38)
  • Chr3: 170201230 (on Assembly GRCh37)
Protein change:
G330R
HGVS:
  • NG_034121.1:g.107634G>A
  • NM_020949.2:c.988G>A
  • NP_066000.2:p.Gly330Arg
  • NC_000003.12:g.170483441C>T (GRCh38)
  • NC_000003.11:g.170201230C>T (GRCh37)
  • Q8TBB6:p.Gly330Arg
Links:
NCBI 1000 Genomes Browser:
rs2276717
Molecular consequence:
NM_020949.2:c.988G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00339 (T)
  • 1000 Genomes Project 0.00339
  • Exome Aggregation Consortium (ExAC) 0.00190
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
  • The Genome Aggregation Database (gnomAD) 0.00142
  • The Genome Aggregation Database (gnomAD), exomes 0.00171
  • Trans-Omics for Precision Medicine (TOPMed) 0.00213

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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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 nameSubmission accession
Pathogenic
(Mar 27, 2014)
no assertion criteria providedliterature onlygermlineOMIMSCV000147988.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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