All variants in the B4GALNT1 gene

Information The variants shown are described using the NM_001478.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.12C>T r.(?) p.(Gly4=) - likely benign g.58025904G>A g.57632121G>A B4GALNT1(NM_001478.4):c.12C>T (p.G4=) - SLC26A10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.103C>G r.(?) p.(Leu35Val) - benign g.58025813G>C g.57632030G>C B4GALNT1(NM_001478.4):c.103C>G (p.L35V) - B4GALNT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.295G>A r.(?) p.(Ala99Thr) - VUS g.58025071C>T g.57631288C>T B4GALNT1(NM_001478.4):c.295G>A (p.A99T) - SLC26A10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.334_335dup r.(?) p.(Ala113GlyfsTer27) - pathogenic (recessive) g.58025032_58025033dup g.57631249_57631250dup - - B4GALNT1_000012 ACMG PVS1, PM2, PP1, PP4 PubMed: Saadi 2023 - - Germline yes - - - - Johan den Dunnen
+/. - c.334_335dup r.(?) p.(Ala113GlyfsTer27) - pathogenic (recessive) g.58025032_58025033dup g.57631249_57631250dup - - B4GALNT1_000012 ACMG PVS1, PM2, PP1, PP4 PubMed: Saadi 2023 - - Germline yes - - - - Johan den Dunnen
+/. - c.334_335dup r.(?) p.(Ala113GlyfsTer27) - pathogenic (recessive) g.58025032_58025033dup g.57631249_57631250dup - - B4GALNT1_000012 ACMG PVS1, PM2, PP1, PP4 PubMed: Saadi 2023 - - Germline yes - - - - Johan den Dunnen
+/. - c.334_335dup r.(?) p.(Ala113GlyfsTer27) - pathogenic (recessive) g.58025032_58025033dup g.57631249_57631250dup - - B4GALNT1_000012 ACMG PVS1, PM2, PP1, PP4 PubMed: Saadi 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.451G>A r.(?) p.(Gly151Ser) - likely pathogenic g.58024802C>T g.57631019C>T - - B4GALNT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.451G>A r.(?) p.(Gly151Ser) - VUS g.58024802C>T - NM_001478.4:c.451G>A - B4GALNT1_000010 - Pennings et al. 2022, in progress - - Germline/De novo (untested) - - - - - Maartje Pennings
-?/. - c.532-8C>T r.(=) p.(=) - likely benign g.58024123G>A g.57630340G>A B4GALNT1(NM_001478.4):c.532-8C>T - SLC26A10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.601G>C r.(?) p.(Glu201Gln) - VUS g.58024046C>G g.57630263C>G B4GALNT1(NM_001478.4):c.601G>C (p.E201Q) - SLC26A10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.712+67G>A r.(=) p.(=) - likely benign g.58023868C>T g.57630085C>T B4GALNT1(NM_001276469.1):c.779G>A (p.G260E) - SLC26A10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.712+248G>C r.(=) p.(=) - benign g.58023687C>G g.57629904C>G B4GALNT1(NM_001276469.1):c.960G>C (p.V320=) - B4GALNT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.727G>A r.(?) p.(Glu243Lys) - likely benign g.58022915C>T g.57629132C>T B4GALNT1(NM_001478.4):c.727G>A (p.E243K) - B4GALNT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.728A>G r.(?) p.(Glu243Gly) - likely benign g.58022914T>C g.57629131T>C B4GALNT1(NM_001478.4):c.728A>G (p.E243G) - B4GALNT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.793G>A r.(?) p.(Gly265Arg) - VUS g.58022849C>T g.57629066C>T B4GALNT1(NM_001478.4):c.793G>A (p.G265R, p.(Gly265Arg)) - B4GALNT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.793G>A r.(?) p.(Gly265Arg) - likely benign g.58022849C>T - B4GALNT1(NM_001478.4):c.793G>A (p.G265R, p.(Gly265Arg)) - B4GALNT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.880G>A r.(?) p.(Ala294Thr) - VUS g.58022618C>T g.57628835C>T B4GALNT1(NM_001276468.1):c.715G>A (p.(Ala239Thr)), B4GALNT1(NM_001478.4):c.880G>A (p.A294T) - B4GALNT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.880G>A r.(?) p.(Ala294Thr) - likely benign g.58022618C>T g.57628835C>T B4GALNT1(NM_001276468.1):c.715G>A (p.(Ala239Thr)), B4GALNT1(NM_001478.4):c.880G>A (p.A294T) - B4GALNT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1135C>T r.(?) p.(Leu379=) - likely benign g.58021913G>A - B4GALNT1(NM_001478.4):c.1135C>T (p.L379=) - B4GALNT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1190G>C r.(?) p.(Arg397Pro) - VUS g.58021595C>G g.57627812C>G B4GALNT1(NM_001478.4):c.1190G>C (p.R397P) - SLC26A10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1272C>G r.(?) p.(Val424=) - likely benign g.58021513G>C g.57627730G>C B4GALNT1(NM_001478.4):c.1272C>G (p.V424=), B4GALNT1(NM_001478.5):c.1272C>G (p.(Val424=)) - SLC26A10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1272C>G r.(?) p.(Val424=) - likely benign g.58021513G>C - B4GALNT1(NM_001478.4):c.1272C>G (p.V424=), B4GALNT1(NM_001478.5):c.1272C>G (p.(Val424=)) - SLC26A10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1272C>T r.(?) p.(Val424=) - likely benign g.58021513G>A g.57627730G>A B4GALNT1(NM_001478.4):c.1272C>T (p.V424=) - B4GALNT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1322C>A r.(?) p.(Ala441Glu) - likely pathogenic g.58021463G>T g.57627680G>T - - B4GALNT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1385-10C>T r.(=) p.(=) - likely benign g.58020754G>A g.57626971G>A B4GALNT1(NM_001478.4):c.1385-10C>T - SLC26A10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1547C>T r.(?) p.(Ala516Val) - benign g.58020582G>A g.57626799G>A - - B4GALNT1_000001 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17454674 Germline - 2/2792 individuals - - - Mohammed Faruq
?/. - c.*2901C>T r.(=) p.(=) - VUS g.58017626G>A g.57623843G>A SLC26A10(NM_133489.2):c.1061G>A (p.(Gly354Asp)) - SLC26A10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*3837C>G r.(=) p.(=) - VUS g.58016690G>C g.57622907G>C SLC26A10(NM_133489.2):c.912G>C (p.(Lys304Asn)) - SLC26A10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*3909_*3924del r.(=) p.(=) - VUS g.58016607_58016622del g.57622824_57622839del SLC26A10(NM_133489.2):c.825_840del (p.(Pro277ThrfsTer138)) - SLC26A10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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