RGD:15197220 Rat Genome Database

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Variant: RGD:15197220 -  Homo sapiens

RGD ID: 15197220
RS ID: rs752182830
ClinVar ID: CV773442
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRKL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 21,288,289
GRCh38 22 20,934,001
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005207.4:c.534C>T
NG_016354.1:g.21576C>T
NC_000022.11:g.20934001C>T
NC_000022.10:g.21288289C>T
More... 		07/06/2018 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CRKL
Accession:NM_005207
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSARFDSSDRSAWYMGPVSRQEAQTRLQGQRHGMFLVRDSSTCPGDYVLSVSENSRVSHYIINSLPNRRFKIGDQEFDH
LPALLEFYKIHYLDTTTLIEPAPRYPSPPMGSVSAPNLPTAEDNLEYVRTLYDFPGNDAEDLPFKKGEILVIIEKPEEQW
WSARNKDGRVGMIPVPYVEKLVRSSPHGKHGNRNSNSYGIPEPAHAYAQPQTTTPLPAVSGSPGAAITPLPSTQNGPVFA
KAIQKRVPCAYDKTALALEVGDIVKVTRMNINGQWEGEVNGRKGLFPFTHVKIFDPQNPDENE*

Gene Symbol:CRKL
Accession:NR_156180
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000934448 CLINVAR
dbSNP (RS) rs752182830 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CRKL CLINVAR
OMIM 602007 CLINVAR