RGD:11601444 Rat Genome Database

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Variant: RGD:11601444 -  Homo sapiens

RGD ID: 11601444
RS ID: rs113377784
ClinVar ID: CV315265
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDAP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 75,277,046
GRCh38 8 74,364,811
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008787.3:g.48682A>G
NC_000008.11:g.74364811A>G
NC_000008.10:g.75277046A>G
NM_001362932.2:c.*444A>G
More... 		06/14/2016 3 prime utr variant uncertain significance Charcot-Marie-Tooth disease, Type 4A, axonal form; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE; CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A; CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GDAP1
Accession:XM_047421902
Location:3UTRS;EXON

Gene Symbol:GDAP1
Accession:NM_001362932
Location:3UTRS;EXON

Gene Symbol:GDAP1
Accession:NM_001362930
Location:3UTRS;EXON

Gene Symbol:GDAP1
Accession:NM_001040875
Location:3UTRS;EXON

Gene Symbol:GDAP1
Accession:NM_018972
Location:3UTRS;EXON

Gene Symbol:GDAP1
Accession:NM_001362929
Location:3UTRS;EXON

Gene Symbol:GDAP1
Accession:NM_001362931
Location:INTRON

Gene Symbol:GDAP1
Accession:XM_017013586
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000282172 CLINVAR
  RCV000376870 CLINVAR
dbSNP (RS) rs113377784 CLINVAR
MedGen C1842197 CLINVAR
  C1843183 CLINVAR
NCBI Gene GDAP1 CLINVAR
OMIM 606598 CLINVAR
  607706 CLINVAR
  608340 CLINVAR