Full data view for gene ABHD10

Information The variants shown are described using the NM_018394.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.-14214544_*2242912del r.0? p.0? Unknown ACMG VUS g.97483365_113953480del g.97764521_114234636del chr3, g.97483365_113953480del, arr([GRCh37] 3q11.2q13.31(97483365_113953480)x1), heterozygous - IMPG2_000140 no gene indicated in publication! PubMed: Perea-Romero 2021 - - Unknown ? - - 0 - DNA ? - clinical exome sequencing retinal disease RP-3055 PubMed: Perea-Romero 2021 - - - Spain - - 0 - - 1 LOVD
-?/. - c.79C>T r.(?) p.(Pro27Ser) Unknown - likely benign g.111697987C>T g.111979140C>T ABHD10(NM_001272069.1):c.79C>T (p.(Pro27Ser)) - PHLDB2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.665T>C r.(?) p.(Ile222Thr) Unknown - VUS g.111710312T>C g.111991465T>C ABHD10(NM_001272069.1):c.*99T>C (p.(=)) - ABHD10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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