NM_000335.5(SCN5A):c.4726G>A (p.Val1576Ile) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003656913.2
Allele description [Variation Report for NM_000335.5(SCN5A):c.4726G>A (p.Val1576Ile)]
NM_000335.5(SCN5A):c.4726G>A (p.Val1576Ile)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
milk fat globule-EGF factor 8 protein [Homo sapiens]
milk fat globule-EGF factor 8 protein [Homo sapiens]gi|5174557|ref|NP_005919.1|Protein
-
Partial duplication of the distal phalanx of the 5th finger
Partial duplication of the distal phalanx of the 5th fingerMedGen
-
Duplication of phalanx of 5th finger
Duplication of phalanx of 5th fingerMedGen
-
Partial duplication of the middle phalanx of the 2nd finger
Partial duplication of the middle phalanx of the 2nd fingerMedGen
-
Duplication of the proximal phalanx of the 4th finger
Duplication of the proximal phalanx of the 4th fingerMedGen
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024