RGD:11602394 Rat Genome Database

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Variant: RGD:11602394 -  Homo sapiens

RGD ID: 11602394
RS ID: rs116401333
ClinVar ID: CV323240
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRPV4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 110,236,722
GRCh38 12 109,798,917
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.854-5C>T
LRG_372:g.39491C>T
NG_017090.1:g.39491C>T
NC_000012.12:g.109798917G>A
More... 		08/06/2021 intron variant benign|likely benign adolescent|antenatal <1 / 1 000 000 AllHighlyPenetrant; Amyotrophy, neurogenic scapuloperoneal, New England type; Autosomal dominant congenital benign spinal muscular atrophy; Avascular necrosis of femoral head, primary, 2; Brachyolmia autosomal dominant; Brachyolmia Type 3; Brachyrachia; Charcot-Marie-Tooth disease axonal type 2C; Charcot-Marie-Tooth disease type 2C; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C; Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth Neuropathy Type 2C; Connective tissue disease; Distal spinal muscular atrophy, congenital nonprogressive; Dysmorphism arthrogryposis skeletal maturation advanced; Familial digital arthropathy-brachydactyly; Hereditary motor and sensory neuropathy 2 C; Jequier-Kozlowski syndrome; Metatropic dwarfism; Metatropic dysplasia; Metatropic dysplasia, nonlethal dominant; Neuronopathy, distal hereditary motor, autosomal dominant 8; NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII; none provided; Parastremmatic dwarfism; PSEUDO-MORQUIO SYNDROME, TYPE 2; Scapuloperoneal Form of Spinal Muscular Atrophy; Scapuloperoneal spinal muscular atrophy; Scapuloperoneal spinal muscular atrophy, autosomal dominant; SED, Maroteaux type; Skeletal dysplasia Jequier-Kozlowski type; SMD Kozlowski type; Sodium serum level quantitative trait locus 1; SPINAL MUSCULAR ATROPHY, CONGENITAL BENIGN, WITH CONTRACTURES; Spondyloepimetaphyseal dysplasia, Maroteaux type; Spondyloepiphyseal dysplasia Maroteaux type; Spondylometaphyseal dysplasia, Kozlowski type

Variant Details
Variant Transcripts
Gene Symbol:TRPV4
Accession:NM_001177428
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538633
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538631
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_147204
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429295
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538635
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538630
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_021625
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_001177433
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429293
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538632
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538634
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429296
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_001177431
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_017019774
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429294
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000290377 CLINVAR
  RCV000293748 CLINVAR
  RCV000344124 CLINVAR
  RCV000384639 CLINVAR
  RCV000387995 CLINVAR
  RCV000440972 CLINVAR
  RCV000713887 CLINVAR
  RCV001082758 CLINVAR
  RCV001172946 CLINVAR
  RCV002278389 CLINVAR
  RCV002494958 CLINVAR
dbSNP (RS) rs116401333 CLINVAR
MedGen C0007959 CLINVAR
  C0009782 CLINVAR
  C0265280 CLINVAR
  C0265281 CLINVAR
  C0432227 CLINVAR
  C0751335 CLINVAR
  C1838492 CLINVAR
  C1853710 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TRPV4 CLINVAR
OMIM 113500 CLINVAR
  156530 CLINVAR
  168400 CLINVAR
  181405 CLINVAR
  184095 CLINVAR
  184252 CLINVAR
  600175 CLINVAR
  605427 CLINVAR
  606071 CLINVAR
  606835 CLINVAR
  613508 CLINVAR
  617383 CLINVAR
SNOMED CT 22764001 CLINVAR
  230248006 CLINVAR
  254087001 CLINVAR
  50548001 CLINVAR