All variants in the CSAG1 gene

Information The variants shown are described using the NM_001102576.1 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.-3374C>T r.(?) p.(=) - likely benign g.151899966C>T g.152736994T>A MAGEA12(NM_001166386.3):c.835G>A (p.V279I) - MAGEA12_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-3227C>T r.(?) p.(=) - likely benign g.151900113C>T g.152736847= MAGEA12(NM_001166386.3):c.688G>A (p.A230T) - MAGEA12_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-3124G>A r.(?) p.(=) - likely benign g.151900216G>A - MAGEA12(NM_001166386.3):c.585C>T (p.I195=) - MAGEA12_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-3053T>A r.(?) p.(=) - likely benign g.151900287T>A - MAGEA12(NM_001166386.1):c.514A>T (p.(Ile172Phe)) - MAGEA12_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-3050G>A r.(?) p.(=) - VUS g.151900290G>A - MAGEA12(NM_001166386.3):c.511C>T (p.R171C) - MAGEA12_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-3002A>C r.(?) p.(=) - likely benign g.151900338A>C g.152736622C>G MAGEA12(NM_001166386.1):c.463T>G (p.(Ser155Ala)) - MAGEA12_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-45+237C>T r.(=) p.(=) - VUS g.151903532C>T - - - CSAG1_000001 - - - - Germline - - - - - Yu Sun
?/. - c.-45+267T>C r.(=) p.(=) - VUS g.151903562T>C - - - CSAG1_000003 - - - - Germline - - - - - Yu Sun
-?/. - c.5C>T r.(?) p.(Ser2Leu) - likely benign g.151904507C>T - CSAG1(NM_153478.2):c.5C>T (p.S2L) - MAGEA12_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.83A>G r.(?) p.(Tyr28Cys) - VUS g.151908844A>G g.152728156T>C Y28C - CSAG1_000019 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
?/. - c.83A>T r.(?) p.(Tyr28Phe) - VUS g.151908844A>T g.152728156T>A Y28F - CSAG1_000020 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - Lucy Raymond
-?/. - c.118C>T r.(?) p.(Pro40Ser) - likely benign g.151908879C>T g.152728121T>A CSAG1(NM_001102576.1):c.118C>T (p.(Pro40Ser)), CSAG1(NM_153478.2):c.118C>T (p.P40S) - CSAG1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.118C>T r.(?) p.(Pro40Ser) - likely benign g.151908879C>T - CSAG1(NM_001102576.1):c.118C>T (p.(Pro40Ser)), CSAG1(NM_153478.2):c.118C>T (p.P40S) - CSAG1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.185A>G r.(?) p.(=) - VUS g.151909156A>G g.152727846T>C - - CSAG1_000005 - - - - Germline - - - - - Yu Sun
?/. - c.200C>T r.(?) p.(Pro67Leu) - VUS g.151909171C>T g.152727829C>A CSAG1(NM_001102576.1):c.200C>T (p.(Pro67Leu)) - CSAG1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*73C>G r.(=) p.(=) - VUS g.151909281C>G - - - CSAG1_000007 - - - - Germline - - - - - Yu Sun
?/. - c.*97C>T r.(=) p.(=) - VUS g.151909305C>T - - - CSAG1_000009 - - - - Germline - - - - - Yu Sun
?/. - c.*282A>G r.(=) p.(=) - VUS g.151909490A>G g.152727512T>C - - CSAG1_000011 - - - - Germline - - - - - Yu Sun
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