HGVS specifications


Unique identifier OMICS_06151
Software type Package/Module
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Programming languages Python
License Apache License version 2.0
Computer skills Advanced
Stability Stable
Maintained Yes


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HGVS article

HGVS citations

PMCID: 5775547

[…] 85067c.1899a > gp.gln633glnrs617544150.0883265avariant nomenclature based on transcript sequence (nm_002907.3), + 1 as a of atg start codon, according to the human genome variation society (hgvs), hgvs_c for coding dna and hgvs_p for protein variantsbdbsnp 138cminor allele frequency (maf) in exac non-finnish european population [17]dpolyphen-2 prediction: b, benign; d: damaging [15]ecadd phred- […]

PMCID: 4212902

[…] as for the last one, we were able to observe the cosegregation of the deletion within the affected family members (proband's father, see tables 1 and 2)., y =  yes; n = no. nomenclature according to hgvs., y = yes; n = no; nr =  not reported; ni =  not investigated., pathogenicity of the new mutations was established through predictive software such as mutationtaster and mutalyzer [32], [33]., […]

PMCID: 3711885

[…] aligner (bwa) followed by gatk analysis. sanger sequencing was used to confirm variants and to perform familial sequencing. variants are reported according to hgvs nomenclature (http://www.hgvs.org/mutnomen) using ncbi reference sequence nm_001927.3., sequence analysis of 51 cardiomyopathy genes revealed two heterozygous variants in the des gene: c.600delg which is predicted to result […]

PMCID: 3261218

[…] search, a web-based tool providing the potential functional effect of snp, identified it as a snp with low-medium risk., note; hgvs (human genome variation society) name, a the snp reference number, hgvs name, chromosome coordinate, region, and ancestral state were retrieved from the national center for biotechnology information (ncbi) snp database build 132, september 2010., b the position […]

HGVS institution(s)
Invitae Inc, San Francisco, CA; 23andMe Inc, Mountain View, CA, USA

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