Looking for a specific heterozygous sequence variation (Lys170Stop) in a particular gene; I have a VCF file

Looking for a specific heterozygous sequence variation (Lys170Stop) in a particular gene; I have a VCF file

1

I have a VCF file (filtered SNP) from a whole genome sequence performed by Dante Labs.

I’m looking to see if I have a particular variant of a gene, whose mutation is identified by Lys170Stop.

How can I look at both of my alleles for this particular gene to see if any contain this particular variant?

Apologies in advance if this is a silly question – I have a CS background an no experience with bioinformatics. Thanks for your help


variations


genetics


pathogenicity

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