NM_000050.4(ASS1):c.928A>C (p.Lys310Gln)

Variation ID: Help
6339
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Aug 15, 2004
Number of submission(s):
1
Condition(s):
Citrullinemia type I[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000050.4(ASS1):c.928A>C (p.Lys310Gln)

Allele ID:
21378
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.1
Genomic location:
  • Chr9: 130489422 (on Assembly GRCh38)
  • Chr9: 133364809 (on Assembly GRCh37)
Protein change:
K310Q
HGVS:
  • NG_011542.1:g.49716A>C
  • NM_000050.4:c.928A>C
  • NC_000009.12:g.130489422A>C (GRCh38)
  • NP_000041.2:p.Lys310Gln
  • NC_000009.11:g.133364809A>C (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs121908648
Molecular consequence:
NM_000050.4:c.928A>C: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_000050.4(ASS1):c.928A>C (p.Lys310Gln)

GRCh37 Chr9:133364809
Called variantsPotential variants
Sample countno data0 of 41006

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Aug 15, 2004)
no assertion criteria providedliterature onlygermlineOMIMSCV000026902.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 17, 2016