All variants in the SNAI2 gene

Information The variants shown are described using the NM_003068.4 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.35A>G r.(?) p.(Asn12Ser) - VUS g.49833790T>C g.48921231T>C SNAI2(NM_003068.5):c.35A>G (p.N12S) - SNAI2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.146G>A r.(?) p.(Ser49Asn) - likely benign g.49832934C>T - SNAI2(NM_003068.5):c.146G>A (p.S49N) - SNAI2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.154G>T r.(?) p.(Ala52Ser) - likely benign g.49832926C>A - SNAI2(NM_003068.5):c.154G>T (p.A52S) - SNAI2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.237C>T r.(?) p.(Tyr79=) - likely benign g.49832843G>A g.48920284G>A SNAI2(NM_003068.5):c.237C>T (p.Y79=) - SNAI2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2 c.357C>A r.(?) p.(Asp119Glu) - pathogenic g.49832723G>T g.48920164G>T - - SNAI2_000003 - MORL Deafness Variation Database, PubMed: Stegmann 1999 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
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