RGD:15184978 Rat Genome Database

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Variant: RGD:15184978 -  Homo sapiens

RGD ID: 15184978
RS ID: rs145514574
ClinVar ID: CV773364
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRYAA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 44,592,189
GRCh38 21 43,172,079
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363766.1:c.210C>T
NM_000394.4:c.321C>T
NG_009823.1:g.8049C>T
NC_000021.9:g.43172079C>T
More... 		06/28/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CRYAA
Accession:NM_000394
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVTIQHPWFKRTLGPFYPSRLFDQFFGEGLFEYDLLPFLSSTISPYYRQSLFRTVLDSGISEVRSDRDKFVIFLDVKHF
SPEDLTVKVQDDFVEIHGKHNERQDDHGYISREFHRRYRLPSNVDQSALSCSLSADGMLTFCGPKIQTGLDATHAERAIP
VSREEKPTSAPSS*

Gene Symbol:CRYAA
Accession:NM_001363766
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVCPGDSHRPPKALPHLVCGRRGRQVRSDRDKFVIFLDVKHFSPEDLTVKVQDDFVEIHGKHNERQDDHGYISREFHRR
YRLPSNVDQSALSCSLSADGMLTFCGPKIQTGLDATHAERAIPVSREEKPTSAPSS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000930935 CLINVAR
dbSNP (RS) rs145514574 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CRYAA CLINVAR
OMIM 123580 CLINVAR