NCPI FHIR Implementation Guide
0.2.0 - ci-build

NCPI FHIR Implementation Guide - Local Development build (v0.2.0). See the Directory of published versions

CodeSystem: Human Genome Variation Society nomenclature

Official URL: http://varnomen.hgvs.org Version: 0.2.0
Active as of 2019-03-20 Computable Name: Hgvs
Other Identifiers: : urn:oid:2.16.840.1.113883.6.282

HGVS nomenclatures are the guidelines for mutation nomenclature made by the Human Genome Variation Society.

HGVS nomenclature can be used with the HL7 coded data type (code data type that accepts expression data, or a coded expression data type). This coded data type should be able to distinguish expressions in HGVS nomenclature from coded concepts. For example, in the HL7 messages specified according to the HL7 V2 Clinical Genomics Fully LOINC-Qualified Genetic Variation Model, HGVS nomenclature can be used to as the observation values for DNA sequence variations. For example, OBX 1 CWE 48004-6^DNA Sequence Variation^LN   c.1129C>T^^HGVS

Versioning information: The HGVS nomenclature for the description of sequence variants was last modified Feb 20, 2008. The HGVS nomenclature for the description of protein sequence variants was last modified May 12, 2007. The HGVS nomenclature for the description of DNA sequence variants was last modified June 15, 2007 The HGVS nomenclature for the description of RNA sequence variants was last modified May 12, 2007

HGVS nomenclatures can be used freely by the public.

This Code system is referenced in the content logical definition of the following value sets:

This CodeSystem is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

This code system http://varnomen.hgvs.org defines the following codes:

CodeDisplay
c.10283T>G c.10283T>G
c.1090delA c.1090delA
c.1100 G>T c.1100 G>T
c.1130G>A c.1130G>A
c.11521C>G c.11521C>G
c.1152_1170del c.1152_1170del
c.1243A>C c.1243A>C
c.1378C>T c.1378C>T
c.1528 G>C c.1528 G>C
c.1558C>T c.1558C>T
c.1559C>T c.1559C>T
c.158G>T c.158G>T
c.1640A>G c.1640A>G
c.1720C>T c.1720C>T
c.1823T>G c.1823T>G
c.2056+1G>T c.2056+1G>T
c.2159 A>T c.2159 A>T
c.223delG c.223delG
c.2258C>G c.2258C>G
c.226C>T c.226C>T
c.2303C>T c.2303C>T
c.2332G>A c.2332G>A
c.2405G>T c.2405G>T
c.2471T>C c.2471T>C
c.2539_2541del c.2539_2541del
c.257 G>A c.257 G>A
c.265T>A c.265T>A
c.2662G>A c.2662G>A
c.2674C>A c.2674C>A
c.26_28delAGC c.26_28delAGC
c.296 C>T c.296 C>T
c.314delA c.314delA
c.320del c.320del
c.3478G>A c.3478G>A
c.349 C>T c.349 C>T
c.350delC c.350delC
c.4009 G>A c.4009 G>A
c.416T>G c.416T>G
c.441_457del c.441_457del
c.448 C>G c.448 C>G
c.481C>G c.481C>G
c.5 A>G c.5 A>G
c.5294G>A c.5294G>A
c.5375C>T c.5375C>T
c.5380C>T c.5380C>T
c.5549C>G c.5549C>G
c.5693 G>A c.5693 G>A
c.619 G>A c.619 G>A
c.685+1G>C c.685+1G>C
c.7003C>T c.7003C>T
c.700C>A c.700C>A
c.716C>G c.716C>G
c.760 C>A c.760 C>A
c.7955G>A c.7955G>A
c.7975C>T c.7975C>T
c.8056C>G c.8056C>G
c.851G>C c.851G>C
c.863_864insACCT c.863_864insACCT
c.868G>A c.868G>A
c.931C>T c.931C>T
c.9552G>A c.9552G>A
c.959C>T c.959C>T
c.[711G>T;712C>A] c.[711G>T;712C>A]
p.(Arg2659Trp) p.(Arg2659Trp)
p.(Gln9del) p.(Gln9del)
p.(Leu3428Arg) p.(Leu3428Arg)
p.(Met3184Ile) p.(Met3184Ile)
p.(Pro460Ser) p.(Pro460Ser)