RGD:28869283 Rat Genome Database

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Variant: RGD:28869283 -  Homo sapiens

RGD ID: 28869283
RS ID: rs566147187
ClinVar ID: CV900035
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDAP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 75,277,743
GRCh38 8 74,365,508
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001362931.2:c.694+2455C>T
LRG_244:g.49379C>T
NG_008787.3:g.49379C>T
NC_000008.11:g.74365508C>T
More... 		01/13/2018 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:NM_001362930
Location:3UTRS;EXON

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

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

Gene Symbol:GDAP1
Accession:XM_047421902
Location:3UTRS;EXON

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

Gene Symbol:GDAP1
Accession:NM_001040875
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 RCV001163021 CLINVAR
  RCV001163022 CLINVAR
dbSNP (RS) rs566147187 CLINVAR
MedGen C1842197 CLINVAR
  C1843183 CLINVAR
NCBI Gene GDAP1 CLINVAR
OMIM 606598 CLINVAR
  607706 CLINVAR
  608340 CLINVAR