RGD:151805663 Rat Genome Database

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Variant: RGD:151805663 -  Homo sapiens

RGD ID: 151805663
RS ID: rs1948822341
ClinVar ID: CV1340104
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IHH  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 219,920,242
GRCh38 2 219,055,520
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002181.4:c.923G>T
NG_016741.1:g.9997G>T
NC_000002.12:g.219055520C>A
NC_000002.11:g.219920242C>A
More... 		08/14/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:IHH
Accession:NM_002181
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 308
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPARLRPRLHFCLVLLLLLVVPAAWGCGPGRVVGSRRRPPRKLVPLAYKQFSPNVPEKTLGASGRYEGKIARSSERFKE
LTPNYNPDIIFKDEENTGADRLMTQRCKDRLNSLAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDR
NKYGLLARLAVEAGFDWVYYESKAHVHCSVKSEHSAAAKTGGCFPAGAQVRLESGARVALSAVRPGDRVLAMGEDGSPTF
SDVLIFLDREPHRLRAFQVIETQDPPRRLALTPAHLLFTADNHTEPAARFRATFASHVQPGQYVLVAVVPGLQPARVAAV
STHVALGAYAPLTKHGTLVVEDVVASCFAAVADHHLAQLAFWPLRLFHSLAWGSWTPGEGVHWYPQLLYRLGRLLLEEGS
FHPLGMSGAGS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001867531 CLINVAR
dbSNP (RS) rs1948822341 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IHH CLINVAR
OMIM 600726 CLINVAR