Unique variants in gene MCF2L

Information The variants shown are described using the NM_001112732.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Reported     

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     
-?/. 1 - c.79+10271G>A likely benign r.(=) p.(=) g.113634043G>A - MCF2L(NM_001320816.1):c.62G>A (p.R21H) - MCF2L_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1132G>C VUS r.(?) p.(Ala378Pro) g.113729327G>C - MCF2L(NM_024979.4):c.1126G>C (p.A376P) - MCF2L_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 19 c.2066A>G - r.(?) p.(Glu689Gly) g.113739210A>G g.113084896A>G - - MCF2L_000001 1 more item - - - Germline yes - - - - M. Mahdi Motazacker
?/. 1 - c.2582A>G VUS r.(?) p.(Lys861Arg) g.113741757A>G - MCF2L(NM_001112732.2):c.2582A>G (p.(Lys861Arg), p.(Lys859Arg)) - MCF2L_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3032C>T VUS r.(?) p.(Ser1011Leu) g.113748906C>T - MCF2L(NM_001320816.1):c.3044C>T (p.S1015L) - MCF2L_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3075+8C>T likely benign r.(=) p.(=) g.113748957C>T - MCF2L(NM_001112732.2):c.3075+8C>T (p.(=)) - MCF2L_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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