OMOP Concept 36748114

EGFR on GRCh38 chr7: Deletion in position 55173986 to 55173989 and Insertion of C measurement

StandardMeasurementOMOP GenomicOMOP5073724Gene DNA Variant
Maps from
1
Descendants
2
Valid from
26 Feb 2024
Valid to
31 Dec 2099
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Source codes that map to this concept

1 source code normalizes to EGFR on GRCh38 chr7: Deletion in position 55173986 to 55173989 and Insertion of C measurement via the OMOP "Maps to" relationship.

VocabularyCodeNameType
ClinVar54388NM_005228.5(EGFR):c.2127_2130delinsC (p.Glu709_Thr710delinsAsp)Non-standard

Synonyms

Alternative names recorded for EGFR on GRCh38 chr7: Deletion in position 55173986 to 55173989 and Insertion of C measurement across source vocabularies.

  • NC_000007.12:g.55209173_55209176delinsC
  • NC_000007.13:g.55241679_55241682delinsC
  • NC_000007.14:g.55173986_55173989delinsC
  • NG_007726.3:g.159955_159958delinsC
  • NM_005228.5(EGFR):c.2127_2130delinsC (p.Glu709_Thr710delinsAsp)

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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