rs2145968996 Rat Genome Database

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Variant: rs2145968996 -  Homo sapiens

RGD ID: 150335148
RS ID: rs2145968996
ClinVar ID: CV1166384
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRYBA4  CRYBB1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 27,008,124
GRCh38 22 26,612,160
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001887.4:c.211G>A
LRG_1271:g.10868G>A
NG_009826.1:g.10868G>A
NC_000022.11:g.26612160C>T
More... 		03/01/2021 missense variant likely pathogenic none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Variant Details
Variant Transcripts
Gene Symbol:CRYBB1
Accession:XM_011529899
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAAKASASATVAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTVPITSAKAAELPPGNYRLVVFELENFQCRRAEFSGEC
SNLADRGFDRVRSIIVSAGPWVAFEQSNFRGEMFILEKGEYPRWNTWSSSYRSDRLMSFRPIKMDAQEHKISLFEGANFK
GNTIEIQGDDAPSLWVYGFSDRVGSVKVSSGTWVGYQYPGYRGYQYLLEPGDFRHWNEWGAFQPQMQSLRRLRDKQWHLE
GSFPVLATEPPK*

Gene Symbol:CRYBB1
Accession:NM_001887
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAAKASASATVAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTVPITSAKAAELPPGNYRLVVFELENFQCRRAEFSGEC
SNLADRGFDRVRSIIVSAGPWVAFEQSNFRGEMFILEKGEYPRWNTWSSSYRSDRLMSFRPIKMDAQEHKISLFEGANFK
GNTIEIQGDDAPSLWVYGFSDRVGSVKVSSGTWVGYQYPGYRGYQYLLEPGDFRHWNEWGAFQPQMQSLRRLRDKQWHLE
GSFPVLATEPPK*

Gene Symbol:CRYBA4
Accession:NM_001886
Location:INTRON

Gene Symbol:CRYBA4
Accession:XM_006724140
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001531374 CLINVAR
dbSNP (RS) rs2145968996 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CRYBA4 CLINVAR
  CRYBB1 CLINVAR
OMIM 123631 CLINVAR
  600929 CLINVAR