OMOP Concept 35978677

RNF43 on GRCh38 chr17: Substitution in position 58363582 of G replaced by A measurement

StandardMeasurementOMOP GenomicOMOP5106092Gene DNA Variant
Maps from
2
Descendants
2
Valid from
26 Feb 2024
Valid to
31 Dec 2099
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Source codes that map to this concept

2 source codes normalize to RNF43 on GRCh38 chr17: Substitution in position 58363582 of G replaced by A measurement via the OMOP "Maps to" relationship.

VocabularyCodeNameType
ClinVar188056NM_017763.5(RNF43):c.394C>T (p.Arg132Ter)Non-standard
JAX12345RNF43:R132*Non-standard

Synonyms

Alternative names recorded for RNF43 on GRCh38 chr17: Substitution in position 58363582 of G replaced by A measurement across source vocabularies.

  • NC_000017.10:g.56440943G>A
  • NC_000017.11:g.58363582G>A
  • NC_000017.9:g.53795942G>A
  • NG_042894.1:g.59001C>T
  • NM_017763.6(RNF43):c.394C>T (p.Arg132Ter)

Where it sits in the hierarchy

Ordered by distance - 1 is a direct parent or child.

Broader concepts

(1)

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Narrower concepts

(2)

Included automatically when you query with descendants.

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