RGD:11599732 Rat Genome Database

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Variant: RGD:11599732 -  Homo sapiens

RGD ID: 11599732
RS ID: rs199712027
ClinVar ID: CV323228
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRPV4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 110,231,722
GRCh38 12 109,793,917
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.1584+13C>T
LRG_372:g.44491C>T
NG_017090.1:g.44491C>T
NC_000012.12:g.109793917G>A
More... 		12/07/2021 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; 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; none provided; 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:NM_001177428
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538631
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538633
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429293
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429296
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538630
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_001177433
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_021625
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_147204
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538634
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_001177431
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538635
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429294
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538632
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_017019774
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429295
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000267932 CLINVAR
  RCV000271314 CLINVAR
  RCV000303375 CLINVAR
  RCV000325312 CLINVAR
  RCV000360444 CLINVAR
  RCV000363631 CLINVAR
  RCV000611075 CLINVAR
  RCV001697657 CLINVAR
dbSNP (RS) rs199712027 CLINVAR
MedGen 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
  181405 CLINVAR
  184252 CLINVAR
  600175 CLINVAR
  605427 CLINVAR
  606071 CLINVAR
SNOMED CT 22764001 CLINVAR
  230248006 CLINVAR
  254087001 CLINVAR