RGD:10767583 Rat Genome Database

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Variant: RGD:10767583 -  Homo sapiens

RGD ID: 10767583
RS ID: rs864622501
ClinVar ID: CV221768
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDAP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 75,274,214
GRCh38 8 74,361,979
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_001362931.2:c.579+1G>A
NM_018972.4:c.579+1G>A
NM_018972.2:c.579+1G>A
NG_008787.3:g.45850G>A
More... 		03/22/2022 splice donor variant pathogenic|uncertain significance infancy|neonatal Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K; Charcot-Marie-Tooth disease, demyelinating, autosomal recessive; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A; Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth Neuropathy Type 4A; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K; CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A; none provided

Variant Details
Variant Transcripts
Gene Symbol:GDAP1
Accession:NM_001362929
Location:INTRON

Gene Symbol:GDAP1
Accession:NM_001362932
Location:INTRON

Gene Symbol:GDAP1
Accession:NM_001040875
Location:INTRON

Gene Symbol:GDAP1
Accession:NM_018972
Location:INTRON

Gene Symbol:GDAP1
Accession:NM_001362930
Location:INTRON

Gene Symbol:GDAP1
Accession:NM_001362931
Location:INTRON

Gene Symbol:GDAP1
Accession:XM_017013586
Location:INTRON

Gene Symbol:GDAP1
Accession:XM_047421902
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11743580   PMID:12566285   PMID:16199547   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000204949 CLINVAR
  RCV000789161 CLINVAR
  RCV001795333 CLINVAR
  RCV001839450 CLINVAR
  RCV002288831 CLINVAR
dbSNP (RS) rs864622501 CLINVAR
MedGen C0007959 CLINVAR
  C1842197 CLINVAR
  C1842983 CLINVAR
  C1859198 CLINVAR
  C3661900 CLINVAR
NCBI Gene GDAP1 CLINVAR
OMIM 214400 CLINVAR
  606598 CLINVAR
  607831 CLINVAR
  608340 CLINVAR
OMIM Allele 606598.0008 CLINVAR
SNOMED CT 50548001 CLINVAR