RGD:150456763 Rat Genome Database

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Variant: RGD:150456763 -  Homo sapiens

RGD ID: 150456763
RS ID: rs752764598
ClinVar ID: CV1214463
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPDL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 45,792,914
GRCh38 1 45,327,242
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032756.4:c.94C>T
LRG_220:g.18229G>A
NG_008189.1:g.18229G>A
NC_000001.11:g.45327242C>T
More... 		09/03/2021 nonsense pathogenic|likely pathogenic Cerebral palsy, spastic quadriplegic, 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HPDL
Accession:NM_032756
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPALRLCHIAFHVPAGQPLARNLQRLFGF*PLASREVDGWRQLALRSGDAVFLVNEGAGSGEPLYGLDPRHAVPSATN
LCFDVADAGAATRELAALGCSVPVPPVRVRDAQGAATYAVVSSPAGILSLTLLERAGYRGPFLPGFRPVSSAPGPGWVSR
VDHLTLACTPGSSPTLLRWFHDCLGFCHLPLSPGEDPELGLEMTAGFGLGGLRLTALQAQPGSIVPTLVLAESLPGATTR
QDQVEQFLARHKGPGLQHVGLYTPNIVEATEGVATAGGQFLAPPGAYYQQPGKERQIRAAGHEPHLLARQGILLDGDKGK
FLLQVFTKSLFTEDTFFLELIQRQGATGFGQGNIRALWQSVQEQSARSQEA*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:32707086   PMID:33188300   PMID:33970200  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001597560 CLINVAR
  RCV002579506 CLINVAR
dbSNP (RS) rs752764598 CLINVAR
MedGen C0950123 CLINVAR
  C5436628 CLINVAR
NCBI Gene HPDL CLINVAR
OMIM 603513 CLINVAR
  618994 CLINVAR
  619026 CLINVAR
OMIM Allele 618994.0013 CLINVAR