RGD:151743452 Rat Genome Database

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Variant: RGD:151743452 -  Homo sapiens

RGD ID: 151743452
RS ID: rs758491211
ClinVar ID: CV1391093
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRPV4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 110,230,456
GRCh38 12 109,792,651
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.11:g.110230456C>T
NM_001177433.1:c.1503+1G>A
NM_147204.2:c.1644+1G>A
NM_001177428.1:c.1683+1G>A
More... 		11/11/2021 splice donor 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_011538632
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429294
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429296
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_001177431
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_001177433
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538630
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_147204
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538631
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538634
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_021625
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_017019774
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429295
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_047429293
Location:INTRON

Gene Symbol:TRPV4
Accession:NM_001177428
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538635
Location:INTRON

Gene Symbol:TRPV4
Accession:XM_011538633
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001985471 CLINVAR
dbSNP (RS) rs758491211 CLINVAR
MedGen C1853710 CLINVAR
NCBI Gene TRPV4 CLINVAR
OMIM 605427 CLINVAR
  606071 CLINVAR