All transcript variants in gene MOSPD2

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

12 entries on 1 page. Showing entries 1 - 12.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
?/. 2 c.15C>G - r.(?) p.(His5Gln) g.14891816C>G - H5Q - MOSPD2_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. 3 c.96T>C - r.(?) p.(=) g.14910861T>C - Y32Y - MOSPD2_000010 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.303C>G VUS - - g.14913497C>G - MOSPD2:NM_001177475.1:c.114C>G, NM_152581.3:c.303C>G - MOSPD2_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 8 c.654C>T - r.(?) p.(=) g.14927058C>T - V218V - MOSPD2_000011 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
-?/. - c.703-5T>C likely benign - - g.14929354T>C - MOSPD2:NM_001177475.1:c.514-5T>C, NM_152581.3:c.703-5T>C - MOSPD2_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 9 c.719G>A - r.(?) p.(Ser240Asn) g.14929375G>A - S240N - MOSPD2_000012 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
-?/. - c.809A>T likely benign - - g.14929465A>T - MOSPD2:NM_001177475.1:c.620A>T, NM_152581.3:c.809A>T - MOSPD2_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.880-6C>T likely benign - - g.14930365C>T - MOSPD2:NM_001177475.1:c.691-6C>T, NM_152581.3:c.880-6C>T - MOSPD2_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.880-2_880del VUS - - g.14930369_14930371del - MOSPD2:NM_001177475.1:c.691-2_691del, NM_152581.3:c.880-2_880del - MOSPD2_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.993-5C>A likely benign - - g.14932620C>A - MOSPD2:NM_001177475.1:c.804-5C>A, NM_152581.3:c.993-5C>A - MOSPD2_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1019G>A likely benign - - g.14932651G>A - MOSPD2:NM_001177475.1:c.830G>A, NM_152581.3:c.1019G>A - MOSPD2_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1420-41T>G - - p.(=) g.14937753T>G g.14919631T>G - - MOSPD2_000001 - - - - Germline - - - - - Yu Sun
Legend