RGD:15146662 Rat Genome Database

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Variant: RGD:15146662 -  Homo sapiens

RGD ID: 15146662
RS ID: rs17880442
ClinVar ID: CV712804
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 34,492,546
GRCh38 11 34,470,999
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001752.4:c.1476C>T
NG_013339.2:g.37075C>T
NC_000011.10:g.34470999C>T
NC_000011.9:g.34492546C>T
More... 		12/31/2019 synonymous variant benign CAT-related condition; none provided

Variant Details
Variant Transcripts
Gene Symbol:CAT
Accession:NM_001752
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 492
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADSRDPASDQMQHWKEQRAAQKADVLTTGAGNPVGDKLNVITVGPRGPLLVQDVVFTDEMAHFDRERIPERVVHAKGAG
AFGYFEVTHDITKYSKAKVFEHIGKKTPIAVRFSTVAGESGSADTVRDPRGFAVKFYTEDGNWDLVGNNTPIFFIRDPIL
FPSFIHSQKRNPQTHLKDPDMVWDFWSLRPESLHQVSFLFSDRGIPDGHRHMNGYGSHTFKLVNANGEAVYCKFHYKTDQ
GIKNLSVEDAARLSQEDPDYGIRDLFNAIATGKYPSWTFYIQVMTFNQAETFPFNPFDLTKVWPHKDYPLIPVGKLVLNR
NPVNYFAEVEQIAFDPSNMPPGIEASPDKMLQGRLFAYPDTHRHRLGPNYLHIPVNCPYRARVANYQRDGPMCMQDNQGG
APNYYPNSFGAPEQQPSALEHSIQYSGEVRRFNTANDDNVTQVRAFYVNVLNEEQRKRLCENIAGHLKDAQIFIQKKAVK
NFTEVHPDYGSHIQALLDKYNAEKPKNAIHTFVQSGSHLAAREKANL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000967198 CLINVAR
  RCV003972868 CLINVAR
dbSNP (RS) rs17880442 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CAT CLINVAR
OMIM 115500 CLINVAR