RGD:11641239 Rat Genome Database

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Variant: RGD:11641239 -  Homo sapiens

RGD ID: 11641239
RS ID: rs886043501
ClinVar ID: CV271090
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HOXB1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 46,608,097
GRCh38 17 48,530,735
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032884.1:g.5176T>A
NC_000017.11:g.48530735A>T
NC_000017.10:g.46608097A>T
NP_002135.2:p.Phe57Tyr
More... 		03/10/2016 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:HOXB1
Accession:NM_002144
Location:EXON
Amino Acid Prediction: F to Y (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYNRMNSFLEYPLCNRGPSAYSAHSAPTSFPPSSAQAVDSYASEGRYGGGLSSPAYQQNSGYPAQQPPSTLGVPFPSSA
PSGYAPAACSPSYGPSQYYPLGQSEGDGGYFHPSSYGAQLGGLSDGYGAGGAGPGPYPPQHPPYGNEQTASFAPAYADLL
SEDKETPCPSEPNTPTARTFDWMKVKRNPPKTAKVSEPGLGSPSGLRTNFTTRQLTELEKEFHFNKYLSRARRVEIAATL
ELNETQVKIWFQNRRMKQKKREREEGRVPPAPPGCPKEAAGDASDQSTCTSPEASPSSVTS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000352097 CLINVAR
dbSNP (RS) rs886043501 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene HOXB1 CLINVAR
OMIM 142968 CLINVAR