RGD:151858108 Rat Genome Database

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Variant: RGD:151858108 -  Homo sapiens

RGD ID: 151858108
RS ID: rs2136466571
ClinVar ID: CV1363991
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRPV4  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 110,230,234
GRCh38 12 109,792,429
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_017090.1:g.45979A>C
NC_000012.12:g.109792429T>G
NC_000012.11:g.110230234T>G
NP_001170904.1:p.Ile502Leu
More... 		10/14/2021 missense 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRPV4
Accession:XM_011538633
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429296
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_021625
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_001177433
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538631
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_147204
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538635
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_001177428
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538634
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538630
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538632
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429294
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429295
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429293
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_017019774
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_001177431
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001904943 CLINVAR
dbSNP (RS) rs2136466571 CLINVAR
MedGen C1853710 CLINVAR
NCBI Gene TRPV4 CLINVAR
OMIM 605427 CLINVAR
  606071 CLINVAR