All transcript variants in gene ABCB5

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_178559.5 transcript reference sequence.

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

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     
-?/. - c.-2102G>C likely benign r.(?) p.(=) g.20685410G>C - ABCB5(NM_001163941.1):c.710G>C (p.S237T) - ABCB5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-2062G>A likely benign r.(?) p.(=) g.20685450G>A - ABCB5(NM_001163941.1):c.750G>A (p.L250=) - ABCB5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-339A>T VUS r.(?) p.(=) g.20687173A>T - ABCB5(NM_001163941.1):c.997A>T (p.I333F) - ABCB5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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