RGD:11647794 Rat Genome Database

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Variant: RGD:11647794 -  Homo sapiens

RGD ID: 11647794
RS ID: rs886048939
ClinVar ID: CV315980
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRPV4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 110,221,375
GRCh38 12 109,783,570
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_372t1:c.*51G>A
LRG_372:g.54838G>A
NG_017090.1:g.54838G>A
NC_000012.12:g.109783570C>T
More... 		01/12/2018 3 prime utr variant uncertain significance adolescent|antenatal <1 / 1 000 000 Amyotrophy, neurogenic scapuloperoneal, New England type; Autosomal dominant congenital benign spinal muscular atrophy; Brachyolmia autosomal dominant; Brachyolmia Type 3; Brachyrachia; Charcot-Marie-Tooth disease type 2C; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C; Charcot-Marie-Tooth Neuropathy Type 2C; Distal spinal muscular atrophy, congenital nonprogressive; Dysmorphism arthrogryposis skeletal maturation advanced; Hereditary motor and sensory neuropathy 2 C; Jequier-Kozlowski syndrome; Metatropic dwarfism; Metatropic dysplasia, nonlethal dominant; NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII; Scapuloperoneal Form of Spinal Muscular Atrophy; Scapuloperoneal spinal muscular atrophy, autosomal dominant; Skeletal dysplasia Jequier-Kozlowski type; SMD Kozlowski type; SPINAL MUSCULAR ATROPHY, CONGENITAL BENIGN, WITH CONTRACTURES

Variant Details
Variant Transcripts
Gene Symbol:TRPV4
Accession:XM_011538631
Location:3UTRS;EXON

Gene Symbol:TRPV4
Accession:NM_001177428
Location:3UTRS;EXON

Gene Symbol:TRPV4
Accession:NM_147204
Location:3UTRS;EXON

Gene Symbol:TRPV4
Accession:NM_001177431
Location:3UTRS;EXON

Gene Symbol:TRPV4
Accession:XM_047429294
Location:3UTRS;EXON

Gene Symbol:TRPV4
Accession:NM_021625
Location:3UTRS;EXON

Gene Symbol:TRPV4
Accession:XM_011538633
Location:3UTRS;EXON

Gene Symbol:TRPV4
Accession:XM_047429295
Location:3UTRS;EXON

Gene Symbol:TRPV4
Accession:XM_047429293
Location:3UTRS;EXON

Gene Symbol:TRPV4
Accession:NM_001177433
Location:3UTRS;EXON

Gene Symbol:TRPV4
Accession:XM_011538632
Location:3UTRS;EXON

Gene Symbol:TRPV4
Accession:XM_011538630
Location:3UTRS;EXON

Gene Symbol:TRPV4
Accession:XM_017019774
Location:3UTRS;EXON

Gene Symbol:TRPV4
Accession:XM_047429296
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538635
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538634
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000278281 CLINVAR
  RCV000302781 CLINVAR
  RCV000337978 CLINVAR
  RCV000351420 CLINVAR
  RCV000372883 CLINVAR
  RCV000394145 CLINVAR
dbSNP (RS) rs886048939 CLINVAR
MedGen C0265280 CLINVAR
  C0265281 CLINVAR
  C0432227 CLINVAR
  C0751335 CLINVAR
  C1838492 CLINVAR
  C1853710 CLINVAR
NCBI Gene TRPV4 CLINVAR
OMIM 113500 CLINVAR
  156530 CLINVAR
  181405 CLINVAR
  184252 CLINVAR
  600175 CLINVAR
  605427 CLINVAR
  606071 CLINVAR
SNOMED CT 22764001 CLINVAR
  230248006 CLINVAR
  254087001 CLINVAR