All variants in the AWAT2 gene

Information The variants shown are described using the NM_001002254.1 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.82A>C r.(?) p.(Ile28Leu) - VUS g.69269701T>G g.70049851T>G - - AWAT2_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.230G>A r.(?) p.(Arg77His) - likely benign g.69263813C>T g.70043963C>T AWAT2(NM_001002254.1):c.230G>A (p.R77H) - AWAT2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.283G>A r.(?) p.(Asp95Asn) - likely benign g.69263517C>T - AWAT2(NM_001002254.1):c.283G>A (p.D95N) - AWAT2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.286A>G r.(?) p.(Ile96Val) - VUS g.69263514T>C g.70043664T>C - - AWAT2_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.286A>G r.(?) p.(Ile96Val) - likely benign g.69263514T>C g.70043664T>C AWAT2(NM_001002254.1):c.286A>G (p.(Ile96Val)) - AWAT2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.613C>T r.(?) p.(Arg205Trp) - VUS g.69262953G>A g.70043103G>A AWAT2(NM_001002254.1):c.613C>T (p.(Arg205Trp)) - AWAT2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.647+62_647+64del r.(=) p.(=) - VUS g.69262862_69262864del g.70043012_70043014del - - AWAT2_000006 - - - - Germline - - - - - Yu Sun
?/. - c.647+62_647+64del r.(=) p.(=) - VUS g.69262862_69262864del g.70043012_70043014del - - AWAT2_000006 - - - - Germline - - - - - Yu Sun
?/. - c.647+64_647+66del r.(=) p.(=) - VUS g.69262854_69262856del g.70043004_70043006del - - AWAT2_000008 - - - - Germline - - - - - Yu Sun
?/. - c.647+64_647+66del r.(=) p.(=) - VUS g.69262854_69262856del g.70043004_70043006del - - AWAT2_000008 - - - - Germline - - - - - Yu Sun
?/. - c.648-187A>G r.(=) p.(=) - VUS g.69262423T>C g.70042573T>C - - AWAT2_000004 - - - - Germline - - - - - Yu Sun
?/. - c.648-187A>G r.(=) p.(=) - VUS g.69262423T>C g.70042573T>C - - AWAT2_000004 - - - - Germline - - - - - Yu Sun
-?/. - c.752G>A r.(?) p.(Ser251Asn) - likely benign g.69262132C>T g.70042282C>T AWAT2(NM_001002254.1):c.752G>A (p.S251N) - AWAT2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.*6077A>C r.(=) p.(=) - VUS g.69255431T>G g.70035581T>G EDA(NM_001399.5):c.1148T>G (p.I383S) - AWAT2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*6103G>C r.(=) p.(=) - VUS g.69255405C>G g.70035555C>G EDA(NM_001399.4):c.1122C>G (p.S374R) - EDA_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.*6111T>C r.(=) p.(=) - pathogenic g.69255397A>G - EDA(NM_001399.5):c.1114A>G (p.N372D) - AWAT2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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