OMOP Concept 19640179
SMARCA4 protein: Frameshift substitution in position 272 of M replaced by C followed by a new reading frame extending for an uncertain number of amino acids measurement
StandardMeasurementOMOP GenomicOMOP5554040Gene Protein Variant
Maps from
0
Descendants
0
Valid from
26 Feb 2024
Valid to
31 Dec 2099
OMOP concepts
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Synonyms
Alternative names recorded for SMARCA4 protein: Frameshift substitution in position 272 of M replaced by C followed by a new reading frame extending for an uncertain number of amino acids measurement across source vocabularies.
- ENSP00000343896.4:p.Met272CysfsTer?
- ENSP00000495368.1:p.Met272CysfsTer?
- NP_001374212.1:p.Met272CysfsTer?
- NP_003063.2:p.Met272CysfsTer?
- SMARCA4 M272C_fs_Ter?
- SMARCA4:p.Met272CysfsTer?
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(5)Roll up to these when you need a wider cohort.
- 1SMARCA4 transcript: Deletion in position 804 measurement
- 1SMARCA4 transcript: Deletion in position 810 measurement
- 2SMARCA4 on GRCh38 chr19: Deletion in position 10986948 measurement
- 2SMARCA4 on GRCh38 chr19: Deletion in position 10986954 measurement
- 3SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4) gene variant measurement
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