Unique variants in the ALG14 gene

Information The variants shown are described using the NM_144988.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Reported     

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     
./. 1 - c.-3311981_*1637149del r.? p.? - pathogenic g.93811483_98850435del - - - DPYD_000017 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.98C>T r.(?) p.Pro33Leu ACMG VUS g.95538357G>A g.95072801G>A - - ALG14_000002 ACMG grading: BP4,PM2 - - rs200080963 Germline - - - - - Andreas Laner
-?/. 1 - c.113G>T r.(?) p.(Ser38Ile) - likely benign g.95538342C>A g.95072786C>A ALG14(NM_144988.4):c.113G>T (p.S38I) - ALG14_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.291T>C r.(?) p.(Tyr97=) - likely benign g.95492814A>G - ALG14(NM_144988.4):c.291T>C (p.Y97=) - ALG14_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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