Full data view for gene FUT2

Information The variants shown are described using the NM_000511.5 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.91C>T r.(?) p.(Arg31Trp) Unknown - VUS g.49206304C>T - - - FUT2_000006 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.337G>A r.(?) p.(Val113Met) Unknown - VUS g.49206550G>A - FUT2(NM_000511.5):c.337G>A (p.V113M) - FUT2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.418A>T r.(?) p.(Ile140Phe) Parent #1 - benign g.49206631A>T g.48703374A>T - - FUT2_000001 178 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 178/2787 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 178 Mohammed Faruq
-/. - c.418A>T r.(?) p.(Ile140Phe) Both (homozygous) - benign g.49206631A>T g.48703374A>T - - FUT2_000001 41 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 41/2787 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 41 Mohammed Faruq
-?/. - c.433G>A r.(?) p.(Val145Ile) Unknown - likely benign g.49206646G>A - FUT2(NM_000511.5):c.433G>A (p.V145I) - FUT2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.482G>A r.(?) p.(Arg161His) Unknown - VUS g.49206695G>A - - - FUT2_000010 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.499G>A r.(?) p.(Glu167Lys) Unknown - VUS g.49206712G>A - - - FUT2_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.548G>A r.(?) p.(Arg183Gln) Unknown - VUS g.49206761G>A - - - FUT2_000008 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
+/. - c.604C>T r.(?) p.(Arg202*) Parent #1 - pathogenic g.49206817C>T g.48703560C>T - - FUT2_000002 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 3/2787 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.604C>T r.(?) p.(Arg202*) Unknown - VUS g.49206817C>T - - - FUT2_000002 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.604C>T r.(?) p.(Arg202*) Unknown - VUS g.49206817C>T - - - FUT2_000002 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.604C>T r.(?) p.(Arg202*) Unknown - VUS g.49206817C>T - - - FUT2_000002 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.604C>T r.(?) p.(Arg202*) Unknown - VUS g.49206817C>T - - - FUT2_000002 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.604C>T r.(?) p.(Arg202*) Unknown - VUS g.49206817C>T - - - FUT2_000002 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
+/. - c.604C>T r.(?) p.(Arg202*) Unknown - pathogenic g.49206817C>T - FUT2(NM_000511.5):c.604C>T (p.(Arg202*)) - FUT2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.720_722del r.(?) p.(Val241del) Unknown - VUS g.49206933_49206935del g.48703676_48703678del FUT2(NM_000511.5):c.720_722delGGT (p.V241del) - FUT2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.851C>T r.(?) p.(Thr284Ile) Unknown - VUS g.49207064C>T - FUT2(NM_000511.5):c.851C>T (p.T284I) - FUT2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.882G>A r.(?) p.(Trp294*) Unknown - VUS g.49207095G>A - - - FUT2_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.882G>A r.(?) p.(Trp294*) Unknown - VUS g.49207095G>A - - - FUT2_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.886G>A r.(?) p.(Ala296Thr) Unknown - VUS g.49207099G>A - - - FUT2_000011 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.888A>C r.(?) p.(Ala296=) Unknown - likely benign g.49207101A>C - FUT2(NM_000511.5):c.888A>C (p.A296=) - FUT2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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