RGD:21069847 Rat Genome Database

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Variant: RGD:21069847 -  Homo sapiens

RGD ID: 21069847
RS ID: rs1596574253
ClinVar ID: CV789596
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HBA1  LOC106804613  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 227,316
GRCh38 16 177,317
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000558.5:c.335C>T
NG_046166.1:g.2800C>T
NC_000016.9:g.227316C>T
NM_000558.3:c.335C>T
More... 		09/24/2018 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HBA1
Accession:NM_000558
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNA
LSALSDLHAHKLRVDPVNFKLLSHCLLVTLAVHLPAEFTPAVHASLDKFLASVSTVLTSKYR*
Variant Samples
Additional References at PubMed
PMID:7615398   PMID:21297231   PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000985710 CLINVAR
dbSNP (RS) rs1596574253 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene 106804613 CLINVAR
  HBA1 CLINVAR
OMIM 141800 CLINVAR