NM_014251.2(SLC25A13):c.1064G>A (p.Arg355Gln)

NM_014251.2(SLC25A13):c.1064G>A (p.Arg355Gln)

Variant type:
single nucleotide variant
Cytogenetic location:
7q21.3
Genomic location:
  • Chr7:96184390 (on Assembly GRCh38)
  • Chr7:95813702 (on Assembly GRCh37)
Protein change:
R355Q
HGVS:
  • NG_012247.1:g.142758G>A
  • NM_014251.2:c.1064G>A
  • NC_000007.14:g.96184390C>T (GRCh38)
  • NP_055066.1:p.Arg355Gln
  • NC_000007.13:g.95813702C>T (GRCh37)
Links:
dbSNP: 398122839
NCBI 1000 Genomes Browser:
rs398122839
Molecular consequence:
  • NM_014251.2:c.1064G>A: missense variant SO:0001583
  • NR_027662.1:n.1139G>A: non-coding transcript variant SO:0001619
Allele frequency:
GMAF 0.00020 (T)

Clinical significance

NM_014251.2(SLC25A13):c.1064G>A (p.Arg355Gln)

Clinical significance:
not provided
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion provided
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

1 Affected gene

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Recent activity

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
not providedno assertion providedliterature onlynot providedCentral Laboratory, The First Affiliated Hospital, Jinan University The First Affiliated Hospital, Jinan University
Study description

(Jan 7, 2014)

SCV000109608
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Central Laboratory, The First Affiliated Hospital, Jinan University The First Affiliated Hospital, Jinan Universitynot providednot providednot providednot providednot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
Central Laboratory, The First Affiliated Hospital, Jinan University The First Affiliated Hospital, Jinan Universitynot providednot providedNeonatal intrahepatic cholestasis caused by citrin deficiency (not provided)not providednot providednot providednot provided

Last Updated: Jun 27, 2015