Full data view for 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.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-2102G>C r.(?) p.(=) Unknown - likely benign g.20685410G>C g.20645787G>C ABCB5(NM_001163941.1):c.710G>C (p.S237T) - ABCB5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2062G>A r.(?) p.(=) Unknown - likely benign g.20685450G>A g.20645827G>A ABCB5(NM_001163941.1):c.750G>A (p.L250=) - ABCB5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-339A>T r.(?) p.(=) Unknown - VUS g.20687173A>T g.20647550A>T ABCB5(NM_001163941.1):c.997A>T (p.I333F) - ABCB5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2248C>T r.(?) p.(Gln750*) Both (homozygous) - VUS g.20795056C>T g.20755433C>T 3583C>T - ABCB5_000004 - PubMed: Cavarocchi 2021, Journal: Cavarocchi 2021 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG-I blood WES (whole exome sequencing) INFM patient PubMed: Cavarocchi 2021, Journal: Cavarocchi 2021 - M yes Guinea African - 0 - - 1 Aminata Toure
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