Full data view for gene MOSPD2

Information The variants shown are described using the NM_152581.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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     
?/. 2 c.15C>G r.(?) p.(His5Gln) Parent #1 - VUS g.14891816C>G g.14873694C>G H5Q - MOSPD2_000009 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
?/. 3 c.96T>C r.(?) p.(=) Parent #1 - VUS g.14910861T>C g.14892739T>C Y32Y - MOSPD2_000010 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.303C>G r.(?) p.(Asp101Glu) Unknown - VUS g.14913497C>G g.14895375C>G MOSPD2(NM_001177475.1):c.114C>G (p.(Asp38Glu)) - MOSPD2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.364A>G r.(?) p.(Ile122Val) Unknown - likely benign g.14915247A>G - MOSPD2(NM_152581.3):c.364A>G (p.I122V) - MOSPD2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.654C>T r.(?) p.(=) Parent #1 - VUS g.14927058C>T g.14908936C>T V218V - MOSPD2_000011 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
?/. 9 c.719G>A r.(?) p.(Ser240Asn) Parent #1 - VUS g.14929375G>A g.14911253G>A S240N - MOSPD2_000012 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
?/. - c.809A>T r.(?) p.(Asp270Val) Unknown - VUS g.14929465A>T g.14911343A>T MOSPD2(NM_001177475.1):c.620A>T (p.(Asp207Val)) - MOSPD2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.880-6C>T r.(=) p.(=) Unknown - likely benign g.14930365C>T g.14912243C>T MOSPD2(NM_001177475.1):c.691-6C>T (p.(=)) - MOSPD2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1361C>T r.(?) p.(Thr454Met) Unknown - likely benign g.14936846C>T g.14918724C>T MOSPD2(NM_152581.3):c.1361C>T (p.T454M) - MOSPD2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1420-41T>G r.(=) p.(=) Unknown - VUS g.14937753T>G g.14919631T>G - - MOSPD2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1510C>G r.(?) p.(Leu504Val) Unknown - likely benign g.14937884C>G g.14919762C>G MOSPD2(NM_001177475.1):c.1321C>G (p.(Leu441Val)) - MOSPD2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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