rs113418909 Rat Genome Database

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Variant: rs113418909 -  Homo sapiens

RGD ID: 8600390
RS ID: rs113418909
ClinVar ID: CV32013
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPINA6  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 94,780,642
GRCh38 14 94,314,305
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_011796.1:g.14047T>A
NC_000014.9:g.94314305A>T
NC_000014.8:g.94780642A>T
P08185:p.Leu115His
More... 		05/10/2024 missense|missense variant pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance <1 / 1 000 000 AllHighlyPenetrant; CBG DEFICIENCY; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; SERPINA6-related condition; TRANSCORTIN DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SERPINA6
Accession:XM_047431827
Location:EXON
Amino Acid Prediction: L to H (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLLLYTCLLWLPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLVALSPKKNIFISPVSISMALAMLSLG
TCGHTRAQLLQGLGFNLTERSETEIHQGFQHLHQHFAKSDTSLEMTMGNALFLDGSLELLESFSADIKHYYESEVLAMNF
QDWATASRQINSYVKNKTQGKIVDLFSGLDSPAILVLVNYIFFKGIPTHPHLKAHPLWPGITAAKIQGTLLGKVFDSVKH
IHIWESPSSPQSCWTCLLLFLGTWTQPFDLASTREENFYVDETTVVKVPMMLQSSTISYLHDSELPCQLVQMNYVGNGTV
FFILPDKGKMNTVIAALSRDTINRWSAGLTSSQVDLYIPKVTISGVYDLGDVLEEMGIADLFTNQANFSRITQDAQLKSS
KVVHKAVLQLNEEGVDTAGSTGVTLNLTSKPIILRFNQPFIIMIFDHFTWSSLFLARVMNPV*

Gene Symbol:SERPINA6
Accession:NM_001756
Location:EXON
Amino Acid Prediction: L to H (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLLLYTCLLWLPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLVALSPKKNIFISPVSISMALAMLSLG
TCGHTRAQLLQGLGFNLTERSETEIHQGFQHLHQHFAKSDTSLEMTMGNALFLDGSLELLESFSADIKHYYESEVLAMNF
QDWATASRQINSYVKNKTQGKIVDLFSGLDSPAILVLVNYIFFKGTWTQPFDLASTREENFYVDETTVVKVPMMLQSSTI
SYLHDSELPCQLVQMNYVGNGTVFFILPDKGKMNTVIAALSRDTINRWSAGLTSSQVDLYIPKVTISGVYDLGDVLEEMG
IADLFTNQANFSRITQDAQLKSSKVVHKAVLQLNEEGVDTAGSTGVTLNLTSKPIILRFNQPFIIMIFDHFTWSSLFLAR
VMNPV*
Variant Samples
Additional References at PubMed
PMID:1504007   PMID:7061486   PMID:8212073  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018495 CLINVAR
  RCV000479165 CLINVAR
  RCV003934839 CLINVAR
  RCV004689423 CLINVAR
dbSNP (RS) rs113418909 CLINVAR
MedGen C1852529 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SERPINA6 CLINVAR
OMIM 122500 CLINVAR
  611489 CLINVAR
OMIM Allele 122500.0001 CLINVAR