RGD:13534550 Rat Genome Database

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Variant: RGD:13534550 -  Homo sapiens

RGD ID: 13534550
RS ID: rs202059380
ClinVar ID: CV502365
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDAP1  LOC130000622  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 75,262,825
GRCh38 8 74,350,590
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_244t1:c.117+12C>G
NG_008787.3:g.34461C>G
NC_000008.11:g.74350590C>G
NC_000008.10:g.75262825C>G
More... 		11/24/2021 intron variant benign|likely benign AllHighlyPenetrant; 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GDAP1
Accession:NM_001040875
Location:5UTRS;INTRON

Gene Symbol:GDAP1
Accession:NM_001362929
Location:5UTRS;INTRON

Gene Symbol:GDAP1
Accession:NM_001362932
Location:5UTRS;INTRON

Gene Symbol:GDAP1
Accession:XM_017013586
Location:INTRON

Gene Symbol:GDAP1
Accession:NM_018972
Location:INTRON

Gene Symbol:GDAP1
Accession:NM_001362931
Location:INTRON

Gene Symbol:GDAP1
Accession:NM_001362930
Location:INTRON

Gene Symbol:GDAP1
Accession:XM_047421902
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000607358 CLINVAR
  RCV001173549 CLINVAR
  RCV002062817 CLINVAR
dbSNP (RS) rs202059380 CLINVAR
MedGen C0007959 CLINVAR
  C1859198 CLINVAR
  CN169374 CLINVAR
NCBI Gene GDAP1 CLINVAR
  LOC130000622 CLINVAR
OMIM 214400 CLINVAR
  606598 CLINVAR
SNOMED CT 50548001 CLINVAR