Full data view for gene LMCD1

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

4 entries on 1 page. Showing entries 1 - 4.
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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.230A>G r.(?) p.(Lys77Arg) Unknown - VUS g.8578969A>G g.8537283A>G LMCD1(NM_001278235.1):c.230A>G (p.K77R) - LMCD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.238A>G r.(?) p.(Thr80Ala) Unknown - VUS g.8578977A>G g.8537291A>G LMCD1(NM_001278235.1):c.238A>G (p.T80A) - LMCD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.413C>T r.(?) p.(Pro138Leu) Unknown - VUS g.8590279C>T g.8548593C>T LMCD1(NM_001278233.1):c.194C>T (p.(Pro65Leu)) - LMCD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1000G>A r.(?) p.(Val334Ile) Unknown - likely benign g.8609186G>A g.8567500G>A LMCD1(NM_001278233.1):c.781G>A (p.(Val261Ile)) - LMCD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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