rs771441863 Rat Genome Database

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Variant: rs771441863 -  Homo sapiens

RGD ID: 127274457
RS ID: rs771441863
ClinVar ID: CV1065751
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: SERPINA6  
Reference Nucleotide: CA
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 14 94,780,822 - 94,780,824
GRCh38 14 94,314,485 - 94,314,487
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001756.4:c.164_165del
NG_011796.1:g.13867_13868del
NC_000014.9:g.94314485_94314486del
NC_000014.8:g.94780822_94780823del
More... 		05/11/2021 frameshift variant likely pathogenic CBG DEFICIENCY; 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: V to G (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLLLYTCLLWLPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLGALSPKKNIFISPVSISMALAMLSLG
TCGHTRAQLLQGLGFNLTERSETEIHQGFQHLHQLFAKSDTSLEMTMGNALFLDGSLELLESFSADIKHYYESEVLAMNF
QDWATASRQINSYVKNKTQGKIVDLFSGLDSPAILVLVNYIFFKGTWTQPFDLASTREENFYVDETTVVKVPMMLQSSTI
SYLHDSELPCQLVQMNYVGNGTVFFILPDKGKMNTVIAALSRDTINRWSAGLTSSQVDLYIPKVTISGVYDLGDVLEEMG
IADLFTNQANFSRITQDAQLKSSKVVHKAVLQLNEEGVDTAGSTGVTLNLTSKPIILRFNQPFIIMIFDHFTWSSLFLAR
VMNPV*

Gene Symbol:SERPINA6
Accession:XM_047431827
Location:EXON
Amino Acid Prediction: V to G (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLLLYTCLLWLPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLGALSPKKNIFISPVSISMALAMLSLG
TCGHTRAQLLQGLGFNLTERSETEIHQGFQHLHQLFAKSDTSLEMTMGNALFLDGSLELLESFSADIKHYYESEVLAMNF
QDWATASRQINSYVKNKTQGKIVDLFSGLDSPAILVLVNYIFFKGIPTHPHLKAHPLWPGITAAKIQGTLLGKVFDSVKH
IHIWESPSSPQSCWTCLLLFLGTWTQPFDLASTREENFYVDETTVVKVPMMLQSSTISYLHDSELPCQLVQMNYVGNGTV
FFILPDKGKMNTVIAALSRDTINRWSAGLTSSQVDLYIPKVTISGVYDLGDVLEEMGIADLFTNQANFSRITQDAQLKSS
KVVHKAVLQLNEEGVDTAGSTGVTLNLTSKPIILRFNQPFIIMIFDHFTWSSLFLARVMNPV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001391242 CLINVAR
dbSNP (RS) rs771441863 CLINVAR
MedGen C1852529 CLINVAR
NCBI Gene SERPINA6 CLINVAR
OMIM 122500 CLINVAR
  611489 CLINVAR