All transcript variants in gene LMCD1

Information The variants shown are described using the NM_014583.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
?/. - c.230A>G VUS r.(?) p.(Lys77Arg) g.8578969A>G - LMCD1(NM_001278235.1):c.230A>G (p.K77R) - LMCD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.238A>G VUS r.(?) p.(Thr80Ala) g.8578977A>G - LMCD1(NM_001278235.1):c.238A>G (p.T80A) - LMCD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.583G>A likely benign r.(?) p.(Gly195Ser) g.8590449G>A - LMCD1(NM_001278233.1):c.364G>A (p.(Gly122Ser), p.(Gly83Ser), p.(Gly195Ser)) - LMCD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.913C>T likely benign r.(?) p.(Arg305Trp) g.8607307C>T - LMCD1(NM_001278233.1):c.694C>T (p.(Arg232Trp), p.(Arg193Trp), p.(Arg305Trp)) - LMCD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1000G>A likely benign r.(?) p.(Val334Ile) g.8609186G>A - LMCD1(NM_001278233.1):c.781G>A (p.(Val261Ile), p.(Val222Ile), p.(Val334Ile)) - LMCD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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