Full data view for gene P2RY4

Information The variants shown are described using the NM_002565.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.40C>T r.(?) p.(Leu14Phe) Unknown - VUS g.69479435G>A g.70259585G>A P2RY4(NM_002565.3):c.40C>T (p.(Leu14Phe)) - P2RY4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.59G>A r.(?) p.(Ser20Asn) Unknown - likely benign g.69479416C>T g.70259566C>T P2RY4(NM_002565.3):c.59G>A (p.S20N) - P2RY4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.334C>T r.(?) p.(Arg112Cys) Unknown - VUS g.69479141G>A g.70259291G>A P2RY4(NM_002565.3):c.334C>T (p.R112C) - P2RY4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.434G>A r.(?) p.(Arg145His) Unknown - likely benign g.69479041C>T g.70259191C>T P2RY4(NM_002565.3):c.434G>A (p.R145H) - P2RY4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.533A>C r.(?) p.(Asn178Thr) Parent #1 - VUS g.69478942T>G g.70259092T>G - - P2RY4_000011 recurrent, found 27 times PubMed: Tarpey 2009 - - Germline - 27/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 27 Lucy Raymond
?/. - c.657C>G r.(?) p.(Cys219Trp) Unknown - VUS g.69478818G>C g.70258968G>C P2RY4(NM_002565.3):c.657C>G (p.C219W) - P2RY4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.700T>G r.(?) p.(Ser234Ala) Parent #1 - VUS g.69478775A>C g.70258925A>C - - P2RY4_000010 recurrent, found 10 times PubMed: Tarpey 2009 - - Germline - 10/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 10 Lucy Raymond
-?/. - c.726C>A r.(=) p.(=) Parent #1 - likely benign g.69478749G>T g.70258899G>T R242R - P2RY4_000009 recurrent, found 11 times PubMed: Tarpey 2009 - - Germline - 11/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 11 Lucy Raymond
?/. - c.739A>G r.(?) p.(Ile247Val) Parent #1 - VUS g.69478736T>C g.70258886T>C - - P2RY4_000008 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 5 Lucy Raymond
-?/. - c.849T>G r.(?) p.(Ile283Met) Unknown - likely benign g.69478626A>C g.70258776A>C P2RY4(NM_002565.3):c.849T>G (p.I283M) - P2RY4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.874C>T r.(?) p.(Arg292Trp) Unknown - VUS g.69478601G>A g.70258751G>A P2RY4(NM_002565.3):c.874C>T (p.R292W) - P2RY4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.940C>T r.(?) p.(Arg314Ter) Unknown - VUS g.69478535G>A g.70258685G>A P2RY4(NM_002565.3):c.940C>T (p.(Arg314Ter)) - P2RY4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.953G>A r.(?) p.(Arg318His) Unknown - VUS g.69478522C>T g.70258672C>T P2RY4(NM_002565.3):c.953G>A (p.(Arg318His)) - P2RY4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1043G>A r.(?) p.(Trp348*) Parent #1 - VUS g.69478432C>T g.70258582C>T - - P2RY4_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1054C>A r.(?) p.(Pro352Thr) Parent #1 - VUS g.69478421G>T g.70258571G>T - - P2RY4_000006 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 6 Lucy Raymond
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