Unique variants in the GRIPAP1 gene

Information The variants shown are described using the NM_020137.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.10G>T r.(?) p.(Ala4Ser) - VUS g.48858631C>A g.49002220C>A GRIPAP1(NM_020137.4):c.10G>T (p.A4S) - GRIPAP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.457+45G>C r.(=) p.(=) - VUS g.48849795C>G g.48993383C>G - - GRIPAP1_000007 - - - - Germline - - - - - Yu Sun
?/. 1 - c.731G>A r.(?) p.(Arg244His) - VUS g.48846286C>T g.48989874C>T GRIPAP1(NM_020137.4):c.731G>A (p.R244H) - GRIPAP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.1163A>G r.(?) p.(Asn388Ser) - likely benign, VUS g.48841694T>C g.48985281T>C GRIPAP1(NM_020137.3):c.1163A>G (p.(Asn388Ser)), GRIPAP1(NM_020137.4):c.1163A>G (p.N388S) - GRIPAP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.1284G>A r.(?) p.(Lys428=) - likely benign g.48839841C>T - GRIPAP1(NM_020137.4):c.1284G>A (p.K428=) - GRIPAP1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1295T>A r.(?) p.(Met432Lys) - likely benign g.48839830A>T g.48983418A>T GRIPAP1(NM_020137.3):c.1295T>A (p.(Met432Lys)) - GRIPAP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1384G>T r.(?) p.(Val462Leu) - likely benign g.48839741C>A g.48983329C>A GRIPAP1(NM_020137.3):c.1384G>T (p.(Val462Leu)) - GRIPAP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1403G>A r.(?) p.(Arg468His) - VUS g.48839722C>T g.48983310C>T GRIPAP1(NM_020137.3):c.1403G>A (p.(Arg468His)) - GRIPAP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1445G>A r.(?) p.(Arg482His) - VUS g.48839680C>T g.48983268C>T GRIPAP1(NM_020137.3):c.1445G>A (p.(Arg482His)) - GRIPAP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1463G>A r.(?) p.(Arg488His) - VUS g.48839662C>T g.48983250C>T GRIPAP1(NM_020137.4):c.1463G>A (p.R488H) - GRIPAP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1606C>T r.(?) p.(Leu536=) - likely benign g.48838278G>A g.48981866G>A GRIPAP1(NM_020137.4):c.1606C>T (p.L536=) - GRIPAP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1662C>T r.(=) p.(=) - VUS g.48838222G>A g.48981810G>A H197H - GRIPAP1_000020 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
./. 2 - c.1678-48G>A r.(=) p.(=) - VUS g.48838151C>T g.48981739C>T - - GRIPAP1_000004 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1706G>A r.(?) p.(Arg569Gln) - likely benign g.48838075C>T g.48981663C>T GRIPAP1(NM_020137.4):c.1706G>A (p.R569Q) - GRIPAP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.1733A>C r.(?) p.(Glu578Ala) - likely benign, VUS g.48838048T>G g.48981636T>G E221A, GRIPAP1(NM_020137.3):c.1733A>C (p.(Glu578Ala)) - GRIPAP1_000012 recurrent, found 3 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 3/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
?/. 1 - c.1819G>T r.(?) p.(Gly607Cys) - VUS g.48837839C>A g.48981427C>A GRIPAP1(NM_020137.4):c.1819G>T (p.G607C) - GRIPAP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.1931-245G>A r.(=) p.(=) - VUS g.48835092C>T g.48978680= - - GRIPAP1_000002 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1931-3C>G r.spl? p.? - VUS g.48834850G>C - GRIPAP1(NM_020137.4):c.1931-3C>G - GRIPAP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.2061+351A>C r.(=) p.(=) - VUS g.48834366T>G g.48977954T>G - - GRIPAP1_000001 - - - - Germline - - - - - Yu Sun
./. 2 - c.2061+566T>C r.(=) p.(=) - VUS g.48834151A>G g.48977739= - - GRIPAP1_000010 - - - - Germline - - - - - Yu Sun
?/. 1 - c.2313C>T r.(=) p.(=) - VUS g.48831687G>A g.48975275G>A S414S - GRIPAP1_000021 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.2465G>A r.(?) p.(Arg822Gln) - VUS g.48830666C>T g.48974254C>T R465Q - GRIPAP1_000019 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.*4071C>T r.(=) p.(=) - VUS g.48826534G>A g.48970127G>A KCND1(NM_004979.5):c.145C>T (p.(Arg49Trp)) - KCND1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*4096C>T r.(=) p.(=) - VUS g.48826509G>A - KCND1(NM_004979.5):c.170C>T (p.T57M) - KCND1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*4238T>C r.(=) p.(=) - likely benign g.48826367A>G - KCND1(NM_004979.5):c.312T>C (p.H104=) - KCND1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*4574G>C r.(=) p.(=) - likely benign g.48826031C>G - KCND1(NM_004979.5):c.648G>C (p.R216S) - KCND1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*4698C>T r.(=) p.(=) - benign g.48825907G>A g.48969500G>A KCND1(NM_004979.5):c.772C>T (p.R258C) - KCND1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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