All variants in the FHL2 gene

Information The variants shown are described using the NM_001039492.2 transcript reference sequence.

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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.391C>T r.(?) p.(Arg131Cys) - VUS g.105984137G>A g.105367680G>A - - FHL2_000035 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/121 cases - 0 - Johan den Dunnen
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