OMOP Concept 35981220

ESR1 on GRCh38 chr6: Substitution in position 152098788 of A replaced by C measurement

StandardMeasurementOMOP GenomicOMOP5076975Gene 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 ESR1 on GRCh38 chr6: Substitution in position 152098788 of A replaced by C measurement via the OMOP "Maps to" relationship.

VocabularyCodeNameType
CGIchr6:g.152419923A>Cchr6:g.152419923A>CNon-standard
CIViC50Y537SNon-standard

Synonyms

Alternative names recorded for ESR1 on GRCh38 chr6: Substitution in position 152098788 of A replaced by C measurement across source vocabularies.

  • NC_000006.10:g.152461616A>C
  • NC_000006.11:g.152419923A>C
  • NC_000006.12:g.152098788A>C
  • NG_008493.1:g.413293A>C
  • NG_008493.2:g.447098A>C
  • NM_000125.4(ESR1):c.1610A>C (p.Tyr537Ser)

Where it sits in the hierarchy

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

Broader concepts

(1)

Roll up to these when you need a wider cohort.

Narrower concepts

(2)

Included automatically when you query with descendants.

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