Unique variants in gene SAP25

Information The variants shown are described using the NM_001168682.1 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.-4269G>C likely benign r.(?) p.(=) g.100175361C>G - LRCH4(NM_002319.3):c.1042G>C (p.(Asp348His)) - SAP25_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-3918G>A likely benign r.(?) p.(=) g.100175010C>T - LRCH4(NM_002319.3):c.1181G>A (p.(Arg394Gln)) - LRCH4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-45+8A>G likely benign r.(=) p.(=) g.100170912T>C - SAP25(NM_001168682.1):c.-45+8A>G (p.(=)) - SAP25_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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