All variants in the ABCF2 gene

Information The variants shown are described using the NM_005692.3 transcript reference sequence.

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

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     
?/. - c.112C>T r.(?) p.(Gln38Ter) - VUS g.150923433G>A g.151226347G>A ABCF2(NM_005692.3):c.112C>T (p.(Gln38Ter)) - ABCF2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1551G>T r.(?) p.(Leu517Phe) - VUS g.150912148C>A g.151215062C>A ABCF2(NM_005692.3):c.1551G>T (p.(Leu517Phe)) - ABCF2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1868+163C>T r.(=) p.(=) - likely benign g.150910981G>A g.151213895G>A - - ABCF2_000003 - PubMed: Mavros 2018 - - De novo - 4/56 reads - 0 - Johan den Dunnen
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