Unique variants in gene SP5

Information The variants shown are described using the NM_001003845.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.328G>C VUS r.(?) p.(Glu110Gln) g.171573045G>C - SP5(NM_001003845.2):c.328G>C (p.E110Q) - SP5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.905G>C VUS r.(?) p.(Gly302Ala) g.171573622G>C - SP5(NM_001003845.2):c.905G>C (p.G302A) - SP5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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