Unique variants in gene TMEM200C

Information The variants shown are described using the NM_001080209.1 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.254G>T r.(?) p.(Gly85Val) - VUS g.5891809C>A g.5891810C>A TMEM200C(NM_001080209.2):c.254G>T (p.G85V) - TMEM200C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.963C>G r.(?) p.(Ala321=) - likely benign g.5891100G>C g.5891101G>C TMEM200C(NM_001080209.2):c.963C>G (p.A321=) - TMEM200C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1334C>T r.(?) p.(Ala445Val) - likely benign g.5890729G>A g.5890730G>A TMEM200C(NM_001080209.2):c.1334C>T (p.A445V) - TMEM200C_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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