NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) AND not specified
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Mar 21, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000173697.13
Allele description [Variation Report for NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)]
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Calindoea polygraphalis]
cytochrome oxidase subunit 1, partial (mitochondrion) [Calindoea polygraphalis]gi|320507038|gb|ADW38000.1|Protein
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Heterodontus zebra]
cytochrome oxidase subunit 1, partial (mitochondrion) [Heterodontus zebra]gi|2484103774|gb|WFS29440.1|Protein
-
COX1 [Xenomystus nigri]
COX1 [Xenomystus nigri]Gene ID:7902281Gene
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Last Updated: Oct 26, 2024