rs28929488 Rat Genome Database

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Variant: rs28929488 -  Homo sapiens

RGD ID: 8600391
RS ID: rs28929488
ClinVar ID: CV32014
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPINA6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 94,770,808
GRCh38 14 94,304,471
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.23881G>A
NC_000014.9:g.94304471C>T
NC_000014.8:g.94770808C>T
P08185:p.Asp389Asn
More... 		02/26/2022 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance <1 / 1 000 000 CBG DEFICIENCY; SERPINA6-related condition; TRANSCORTIN DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SERPINA6
Accession:NM_001756
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 389
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLLLYTCLLWLPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLVALSPKKNIFISPVSISMALAMLSLG
TCGHTRAQLLQGLGFNLTERSETEIHQGFQHLHQLFAKSDTSLEMTMGNALFLDGSLELLESFSADIKHYYESEVLAMNF
QDWATASRQINSYVKNKTQGKIVDLFSGLDSPAILVLVNYIFFKGTWTQPFDLASTREENFYVDETTVVKVPMMLQSSTI
SYLHDSELPCQLVQMNYVGNGTVFFILPDKGKMNTVIAALSRDTINRWSAGLTSSQVDLYIPKVTISGVYDLGDVLEEMG
IADLFTNQANFSRITQDAQLKSSKVVHKAVLQLNEEGVDTAGSTGVTLNLTSKPIILRFNQPFIIMIFNHFTWSSLFLAR
VMNPV*

Gene Symbol:SERPINA6
Accession:XM_047431827
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 446
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLLLYTCLLWLPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLVALSPKKNIFISPVSISMALAMLSLG
TCGHTRAQLLQGLGFNLTERSETEIHQGFQHLHQLFAKSDTSLEMTMGNALFLDGSLELLESFSADIKHYYESEVLAMNF
QDWATASRQINSYVKNKTQGKIVDLFSGLDSPAILVLVNYIFFKGIPTHPHLKAHPLWPGITAAKIQGTLLGKVFDSVKH
IHIWESPSSPQSCWTCLLLFLGTWTQPFDLASTREENFYVDETTVVKVPMMLQSSTISYLHDSELPCQLVQMNYVGNGTV
FFILPDKGKMNTVIAALSRDTINRWSAGLTSSQVDLYIPKVTISGVYDLGDVLEEMGIADLFTNQANFSRITQDAQLKSS
KVVHKAVLQLNEEGVDTAGSTGVTLNLTSKPIILRFNQPFIIMIFNHFTWSSLFLARVMNPV*
Variant Samples
Additional References at PubMed
PMID:10634411   PMID:12780753   PMID:17245537   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018496 CLINVAR
  RCV004757950 CLINVAR
dbSNP (RS) rs28929488 CLINVAR
MedGen C1852529 CLINVAR
NCBI Gene SERPINA6 CLINVAR
OMIM 122500 CLINVAR
  611489 CLINVAR
OMIM Allele 122500.0002 CLINVAR