RGD:13617617 Rat Genome Database

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Variant: RGD:13617617 -  Homo sapiens

RGD ID: 13617617
RS ID: rs372251308
ClinVar ID: CV526906
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRPV4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 110,240,791
GRCh38 12 109,802,986
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_372t1:c.712+5G>A
LRG_372:g.35422G>A
NG_017090.1:g.35422G>A
NC_000012.12:g.109802986C>T
More... 		08/25/2020 intron variant uncertain significance Charcot-Marie-Tooth disease type 2C; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C; Charcot-Marie-Tooth Neuropathy Type 2C; Hereditary motor and sensory neuropathy 2 C; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRPV4
Accession:XM_047429296
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_001177433
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538630
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538634
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429294
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_017019774
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_021625
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538633
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429293
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_001177428
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538631
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538632
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538635
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_147204
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429295
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_001177431
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000645549 CLINVAR
  RCV001592800 CLINVAR
dbSNP (RS) rs372251308 CLINVAR
MedGen C1853710 CLINVAR
  C3661900 CLINVAR
NCBI Gene TRPV4 CLINVAR
OMIM 605427 CLINVAR
  606071 CLINVAR