RGD:15163292 Rat Genome Database

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Variant: RGD:15163292 -  Homo sapiens

RGD ID: 15163292
RS ID: rs201198988
ClinVar ID: CV710419
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPA1L  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 31,779,166
GRCh38 6 31,811,389
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.31811389C>T
NC_000006.11:g.31779166C>T
NM_005527.3:c.584G>A
NP_005518.3:p.Arg195Gln
More... 		01/01/2024 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HSPA1L
Accession:NM_005527
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAKGIAIGIDLGTTYSCVGVFQHGKVEIIANDQGNRTTPSYVAFTDTERLIGDAAKNQVAMNPQNTVFDAKRLIGRKF
NDPVVQADMKLWPFQVINEGGKPKVLVSYKGENKAFYPEEISSMVLTKLKETAEAFLGHPVTNAVITVPAYFNDSQRQAT
KDAGVIAGLNVLRIINEPTAAAIAYGLDKGGQGEQHVLIFDLGGGTFDVSILTIDDGIFEVKATAGDTHLGGEDFDNRLV
SHFVEEFKRKHKKDISQNKRAVRRLRTACERAKRTLSSSTQANLEIDSLYEGIDFYTSITRARFEELCADLFRGTLEPVE
KALRDAKMDKAKIHDIVLVGGSTRIPKVQRLLQDYFNGRDLNKSINPDEAVAYGAAVQAAILMGDKSEKVQDLLLLDVAP
LSLGLETAGGVMTALIKRNSTIPTKQTQIFTTYSDNQPGVLIQVYEGERAMTKDNNLLGRFDLTGIPPAPRGVPQIEVTF
DIDANGILNVTATDKSTGKVNKITITNDKGRLSKEEIERMVLDAEKYKAEDEVQREKIAAKNALESYAFNMKSVVSDEGL
KGKISESDKNKILDKCNELLSWLEVNQLAEKDEFDHKRKELEQMCNPIITKLYQGGCTGPACGTGYVPGRPATGPTIEEV
D*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000970452 CLINVAR
dbSNP (RS) rs201198988 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HSPA1L CLINVAR
OMIM 140559 CLINVAR