Unique variants in the RHCE gene

Information The variants shown are described using the NM_020485.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.486C>T r.(?) p.(Asn162=) - likely benign g.25729087G>A - RHCE(NM_020485.5):c.486C>T (p.N162=) - RHCE_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*19500G>A r.(=) p.(=) - VUS g.25669518C>T g.25343027C>T TMEM50A(NM_014313.4):c.160C>T (p.H54Y) - TMEM50A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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