All transcript variants in gene INTS2

Information The variants shown are described using the NM_020748.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.967A>G likely benign r.(?) p.(Asn323Asp) g.59988892T>C - INTS2(NM_020748.2):c.967A>G (p.(Asn323Asp)) - INTS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.3605G>A likely benign r.(?) p.(Ser1202Asn) g.59944928C>T - INTS2(NM_020748.2):c.3605G>A (p.(Ser1202Asn)) - INTS2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*4099G>A benign r.(=) p.(=) g.59940819C>T - BRIP1(NM_032043.2):c.-205G>A - BRIP1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*4285G>A benign r.(=) p.(=) g.59940633C>T - BRIP1(NM_032043.2):c.-31+12G>A - BRIP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*5985T>C likely benign r.(=) p.(=) g.59938933A>G - BRIP1(NM_032043.2):c.-30-3T>C (p.?) - BRIP1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*5985T>C likely benign r.(=) p.(=) g.59938933A>G - BRIP1(NM_032043.2):c.-30-3T>C (p.?) - BRIP1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*6053G>T VUS r.(=) p.(=) g.59938865C>A - BRIP1(NM_032043.2):c.36G>T (p.G12=) - BRIP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.*6053G>T likely benign r.(=) p.(=) g.59938865C>A - BRIP1(NM_032043.2):c.36G>T (p.G12=) - BRIP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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