NM_006214.3(PHYH):c.805A>C (p.Asn269His)

Variation ID: Help
7584
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 1, 1997
Number of submission(s):
1
Condition(s):
Refsum disease, adult, 1[MedGen]
See supporting ClinVar records

Allele(s) Help

NM_006214.3(PHYH):c.805A>C (p.Asn269His)

Allele ID:
22623
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
  • Chr10: 13283713 (on Assembly GRCh38)
  • Chr10: 13325713 (on Assembly GRCh37)
Protein change:
N269H
HGVS:
  • NG_012862.1:g.21418A>C
  • NM_006214.3:c.805A>C
  • NP_006205.1:p.Asn269His
  • NC_000010.11:g.13283713T>G (GRCh38)
  • NC_000010.10:g.13325713T>G (GRCh37)
  • O14832:p.Asn269His
Links:
NCBI 1000 Genomes Browser:
rs104894179
Molecular consequence:
NM_006214.3:c.805A>C: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_006214.3(PHYH):c.805A>C (p.Asn269His)

GRCh37 Chr10:13325713
Called variantsPotential variants
Sample countno data0 of 41030

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.

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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
(Oct 1, 1997)
no assertion criteria providedliterature only
  • Refsum disease, adult, 1[MedGen]
germlineOMIMSCV000028227.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jun 10, 2017