RGD:11608377 Rat Genome Database

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Variant: RGD:11608377 -  Homo sapiens

RGD ID: 11608377
RS ID: rs147070468
ClinVar ID: CV308204
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B4GALT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 33,113,786
GRCh38 9 33,113,788
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001497.3:c.1050A>G
NG_008919.1:g.58571A>G
NC_000009.12:g.33113788T>C
NC_000009.11:g.33113786T>C
More... 		10/01/2023 intron variant|synonymous variant benign|likely benign|uncertain significance AllHighlyPenetrant; B4GALT1-CDG; CDG 2D; CDG IId; Congenital disorder of glycosylation type 2D; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:B4GALT1
Accession:XM_047423232
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLIEFNMPVDLELVAKQNPNVKMGGRYAPRDCVSPHKVAIIIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAGDT
IFNRAKLLNVGFQEALKDYDYTCFVFSDVDLIPMNDHNAYRCFSQPRHISVAMDKFGFSLPYVQYFGGVSALSKQQFLTI
NGFPNNYWGWGGEDDDIFNRLVFRGMSISRPNAVVGRCRMIRHSRDKKNEPNPQRFDRIAHTKETMLSDGLNSLTYQVLD
VQRYPLYTQITVDIGTPS*

Gene Symbol:B4GALT1
Accession:NM_001378495
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 337
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGASLQRACRLLVAVCALHLGVTLVYYLAGRDLSRLPQLVGVSTPLQGGSNSAAAIGQSSGELRTGGARPPPPLGASSQ
PRPGGDSSPVVDSGPGPASNLTSVPVPHTTALSLPACPEESPLLVGPMLIEFNMPVDLELVAKQNPNVKMGGRYAPRDCV
SPHKVAIIIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAGDTIFNRAKLLNVGFQEALKDYDYTCFVFSDVDLIP
MNDHNAYRCFSQPRHISVAMDKFGFSLPYVQYFGGVSALSKQQFLTINGFPNNYWGWGGEDDDIFNRLVFRGMSISRPNA
VVGRCRMIRHSRDKKNEPNPQRFDRIAHTKETMLSDGLNSLTYQVLDVQRYPLYTQITVDIGTPS*

Gene Symbol:B4GALT1
Accession:NM_001378496
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 309
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLREPLLSGSAAMPGASLQRACRLLVAVCALHLGVTLVYYLAGRDLSRLPQLVGVSTPLQGGSNSAAAIGQSSGELRTG
GARPPPPLGASSQPRPGGDSSPVVDSGPGPASNLTSVPVPHTTALSLPACPEESPLLVGPMLIEFNMPVDLELVAKQNPN
VKMGGRYAPRDCVSPHKVAIIIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAGDTIFNRAKLLNVGFQEALKDYD
YTCFVFSDVDLIPMNDHNAYRCFSQPRHISVAMDKFGFRLVFRGMSISRPNAVVGRCRMIRHSRDKKNEPNPQRFDRIAH
TKETMLSDGLNSLTYQVLDVQRYPLYTQITVDIGTPS*

Gene Symbol:B4GALT1
Accession:XM_047423231
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLREPLLSGSAAMPGASLQRACRLLVAVCALHLGVTLVYYLAGRDLSRLPQLVGVSTPLQGGSNSAAAIGQSSGELRTG
GARPPPPLGASSQPRPGGDSSPVVDSGPGPASNLTSVPVPHTTALSLPACPEESPLLVGPMLIEFNMPVDLELVAKQNPN
VKMGGRYAPRDCVSPHKVAIIIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAGDTIFNRAKLLNVGFQEALKDYD
YTCFVFSDVDLIPMNDHNAYRCFSQPRHISVAMDKFGFSLPYVQYFGGVSALSKQQFLTINGFPNNYWGWGGEDDDIFNR
LVFRGMSISRPNAVVGRCRMIRHSRDKKNEPNPQRFDRIAHTKETMLSDGLNSLTYQVLDVQRYPLYTQITVDIGTPS*

Gene Symbol:B4GALT1
Accession:NM_001497
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLREPLLSGSAAMPGASLQRACRLLVAVCALHLGVTLVYYLAGRDLSRLPQLVGVSTPLQGGSNSAAAIGQSSGELRTG
GARPPPPLGASSQPRPGGDSSPVVDSGPGPASNLTSVPVPHTTALSLPACPEESPLLVGPMLIEFNMPVDLELVAKQNPN
VKMGGRYAPRDCVSPHKVAIIIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAGDTIFNRAKLLNVGFQEALKDYD
YTCFVFSDVDLIPMNDHNAYRCFSQPRHISVAMDKFGFSLPYVQYFGGVSALSKQQFLTINGFPNNYWGWGGEDDDIFNR
LVFRGMSISRPNAVVGRCRMIRHSRDKKNEPNPQRFDRIAHTKETMLSDGLNSLTYQVLDVQRYPLYTQITVDIGTPS*

Gene Symbol:B4GALT1
Accession:NM_001378497
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000437780 CLINVAR
  RCV000963462 CLINVAR
  RCV002488829 CLINVAR
dbSNP (RS) rs147070468 CLINVAR
MedGen C2931009 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene B4GALT1 CLINVAR
OMIM 137060 CLINVAR
  607091 CLINVAR