RGD:156288012 Rat Genome Database

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Pathways
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Variant: RGD:156288012 -  Homo sapiens

RGD ID: 156288012
ClinVar ID: CV2172404
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B3GALNT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 235,616,433
GRCh38 1 235,453,121
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152490.5:c.1337G>A
NG_033219.3:g.56331G>A
NG_033219.2:g.56361G>A
NG_009230.2:g.90696C>T
More... 		03/26/2022 nonsense pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A11; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GALNT2-RELATED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:B3GALNT2
Accession:NM_152490
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 446
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPADQLALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQ
HPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITNPVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSL
GVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCGVQVNKLWYKPVEQFILPESFEGTIVWESQDLHGLVSRNLHK
VTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTIQEGDALLHNLHSRPQRLIDHIRNLHEEDALLKEESSIYDDI
VFVDVVDTYRNVPAKLLNFYRWTVETTSFNLLLKTDDDCYIDLEAVFNRIVQKNLDGPNFWWGNFRLNWAVDRTGKWQEL
EYPSPAYPAFACGSGYVISKDIVKWLASNSGRLKTYQGEDVSMGI*MAAIGPKRYQDSLWLCEKTCETGMLSSPQYSPWE
LTELWKLKERCGDPCRCQAR*

Gene Symbol:B3GALNT2
Accession:XM_006711749
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 446
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPADQLALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQ
HPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITNPVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSL
GVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCGVQVNKLWYKPVEQFILPESFEGTIVWESQDLHGLVSRNLHK
VTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTIQEGDALLHNLHSRPQRLIDHIRNLHEEDALLKEESSIYDDI
VFVDVVDTYRNVPAKLLNFYRWTVETTSFNLLLKTDDDCYIDLEAVFNRIVQKNLDGPNFWWGNFRLNWAVDRTGKWQEL
EYPSPAYPAFACGSGYVISKDIVKWLASNSGRLKTYQGEDVSMGI*MAAIGPKRYQDSLWLCEKTCETGMLSSPQYSPWE
LTELWKLKERCPDSKLAREDCLQILQMFSPSVTFGNSSLSALTETWCHLRHDPQDTSHVSTRPCSARLGAQYHTANQFLG
LDHSLHRRGGKQYFFPALGQTVTTFL*

Gene Symbol:B3GALNT2
Accession:XM_017000394
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 487
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPAGGVSLLLPRLECNGAVSAHPNLHLPGSRDSPASASQVAGITDQ
LALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQHPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITN
PVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSLGVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCG
VQVNKLWYKPVEQFILPESFEGTIVWESQDLHGLVSRNLHKVTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTI
QEGDALLHNLHSRPQRLIDHIRNLHEEDALLKEESSIYDDIVFVDVVDTYRNVPAKLLNFYRWTVETTSFNLLLKTDDDC
YIDLEAVFNRIVQKNLDGPNFWWGNFRLNWAVDRTGKWQELEYPSPAYPAFACGSGYVISKDIVKWLASNSGRLKTYQGE
DVSMGI*MAAIGPKRYQDSLWLCEKTCETGMLSSPQYSPWELTELWKLKERCGDPCRCQAR*

Gene Symbol:B3GALNT2
Accession:XM_047447005
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447003
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447002
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447004
Location:INTRON

Gene Symbol:B3GALNT2
Accession:NM_001277155
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26663670   PMID:28492532   PMID:33290285  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003027565 CLINVAR
MedGen C3554638 CLINVAR
NCBI Gene B3GALNT2 CLINVAR
OMIM 610194 CLINVAR
  615181 CLINVAR