RGD:15040209 Rat Genome Database

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Variant: RGD:15040209 -  Homo sapiens

RGD ID: 15040209
RS ID: rs2227956
ClinVar ID: CV682501
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPA1L  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 31,778,272
GRCh38 6 31,810,495
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005527.4:c.1478C>A
NG_011855.1:g.9564C>A
NC_000006.12:g.31810495G>T
NP_005518.3:p.Thr493Lys
More... 		08/04/2019 missense variant association Chronic pulmonary obstruction
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HSPA1L
Accession:NM_005527
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 493
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAKGIAIGIDLGTTYSCVGVFQHGKVEIIANDQGNRTTPSYVAFTDTERLIGDAAKNQVAMNPQNTVFDAKRLIGRKF
NDPVVQADMKLWPFQVINEGGKPKVLVSYKGENKAFYPEEISSMVLTKLKETAEAFLGHPVTNAVITVPAYFNDSQRQAT
KDAGVIAGLNVLRIINEPTAAAIAYGLDKGGQGERHVLIFDLGGGTFDVSILTIDDGIFEVKATAGDTHLGGEDFDNRLV
SHFVEEFKRKHKKDISQNKRAVRRLRTACERAKRTLSSSTQANLEIDSLYEGIDFYTSITRARFEELCADLFRGTLEPVE
KALRDAKMDKAKIHDIVLVGGSTRIPKVQRLLQDYFNGRDLNKSINPDEAVAYGAAVQAAILMGDKSEKVQDLLLLDVAP
LSLGLETAGGVMTALIKRNSTIPTKQTQIFTTYSDNQPGVLIQVYEGERAMTKDNNLLGRFDLTGIPPAPRGVPQIEVTF
DIDANGILNVTAKDKSTGKVNKITITNDKGRLSKEEIERMVLDAEKYKAEDEVQREKIAAKNALESYAFNMKSVVSDEGL
KGKISESDKNKILDKCNELLSWLEVNQLAEKDEFDHKRKELEQMCNPIITKLYQGGCTGPACGTGYVPGRPATGPTIEEV
D*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000856580 CLINVAR
dbSNP (RS) rs2227956 CLINVAR
MedGen C0024117 CLINVAR
NCBI Gene HSPA1L CLINVAR
OMIM 140559 CLINVAR
  606963 CLINVAR