All variants in the ABHD1 gene

Information The variants shown are described using the NM_032604.3 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.*2407G>C r.(=) p.(=) - VUS g.27356019G>C g.27133151G>C PREB(NM_013388.4):c.512C>G (p.(Thr171Ser)) - PREB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*7371T>C r.(=) p.(=) - VUS g.27360983T>C g.27138115T>C C2orf53(NM_178553.3):c.215A>G (p.(Gln72Arg)) - C2orf53_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*7383G>A r.(=) p.(=) - VUS g.27360995G>A g.27138127G>A PRR30(NM_178553.4):c.203C>T (p.S68F) - ABHD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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