RGD:402497630 Rat Genome Database

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Variant: RGD:402497630 -  Homo sapiens

RGD ID: 402497630
ClinVar ID: CV2895022
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B3GALNT2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 235,618,972
GRCh38 1 235,455,660
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.1050T>C
NG_033219.3:g.53792T>C
NG_033219.2:g.53822T>C
NC_000001.11:g.235455660A>G
More... 		07/13/2023 synonymous variant likely benign 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: N to N (synonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPADQLALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQ
HPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITNPVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSL
GVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCGVQVNKLWYKPVEQFILPESFEGTIVWESQDLHGLVSRNLHK
VTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTIQEGDALLHNLHSRPQRLIDHIRNLHEEDALLKEESSIYDDI
VFVDVVDTYRNVPAKLLNFYRWTVETTSFNLLLKTDDDCYIDLEAVFNRIVQKNLDGPNFWWGNFRLNWAVDRTGKWQEL
EYPSPAYPAFACGSGYVISKDIVKWLASNSGRLKTYQGEDVSMGIWMAAIGPKRYQDSLWLCEKTCETGMLSSPQYSPWE
LTELWKLKERCGDPCRCQAR*

Gene Symbol:B3GALNT2
Accession:XM_017000394
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 391
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPAGGVSLLLPRLECNGAVSAHPNLHLPGSRDSPASASQVAGITDQ
LALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQHPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITN
PVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSLGVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCG
VQVNKLWYKPVEQFILPESFEGTIVWESQDLHGLVSRNLHKVTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTI
QEGDALLHNLHSRPQRLIDHIRNLHEEDALLKEESSIYDDIVFVDVVDTYRNVPAKLLNFYRWTVETTSFNLLLKTDDDC
YIDLEAVFNRIVQKNLDGPNFWWGNFRLNWAVDRTGKWQELEYPSPAYPAFACGSGYVISKDIVKWLASNSGRLKTYQGE
DVSMGIWMAAIGPKRYQDSLWLCEKTCETGMLSSPQYSPWELTELWKLKERCGDPCRCQAR*

Gene Symbol:B3GALNT2
Accession:XM_047447004
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 304
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPAGGVSLLLPRLECNGAVSAHPNLHLPGSRDSPASASQVAGITDQ
LALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQHPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITN
PVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSLGVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCG
VQVNKLWYKPVEQFILPESFEGTIVWESQDLHGLVSRNLHKVTVNDGGGVLRVITDCGNNELQLVAEDR*

Gene Symbol:B3GALNT2
Accession:XM_047447005
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPADQLALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQ
HPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITNPVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSL
GVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCGVQVNKLWYKPVEQFILPESFEGTIVWESQDLHGLVSRNLHK
VTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTIQGLWKQRASTCC*

Gene Symbol:B3GALNT2
Accession:XM_006711749
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPADQLALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQ
HPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITNPVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSL
GVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCGVQVNKLWYKPVEQFILPESFEGTIVWESQDLHGLVSRNLHK
VTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTIQEGDALLHNLHSRPQRLIDHIRNLHEEDALLKEESSIYDDI
VFVDVVDTYRNVPAKLLNFYRWTVETTSFNLLLKTDDDCYIDLEAVFNRIVQKNLDGPNFWWGNFRLNWAVDRTGKWQEL
EYPSPAYPAFACGSGYVISKDIVKWLASNSGRLKTYQGEDVSMGIWMAAIGPKRYQDSLWLCEKTCETGMLSSPQYSPWE
LTELWKLKERCPDSKLAREDCLQILQMFSPSVTFGNSSLSALTETWCHLRHDPQDTSHVSTRPCSARLGAQYHTANQFLG
LDHSLHRRGGKQYFFPALGQTVTTFL*

Gene Symbol:B3GALNT2
Accession:XM_047447002
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 330
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPAGGVSLLLPRLECNGAVSAHPNLHLPGSRDSPASASQVAGITDQ
LALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQHPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITN
PVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSLGVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCG
VQVNKLWYKPVEQFILPESFEGTIVWESQDLHGLVSRNLHKVTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTI
QGLWKQRASTCC*

Gene Symbol:B3GALNT2
Accession:XM_047447003
Location:INTRON

Gene Symbol:B3GALNT2
Accession:NM_001277155
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003573561 CLINVAR
MedGen C3554638 CLINVAR
NCBI Gene B3GALNT2 CLINVAR
OMIM 610194 CLINVAR
  615181 CLINVAR