NM_001171.6(ABCC6):c.4210G>A (p.Val1404Met) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002478233.1
Allele description [Variation Report for NM_001171.6(ABCC6):c.4210G>A (p.Val1404Met)]
NM_001171.6(ABCC6):c.4210G>A (p.Val1404Met)
Condition(s)
- Name:
- Autosomal recessive inherited pseudoxanthoma elasticum (PXE)
- Synonyms:
- Gronblad Strandberg syndrome
- Identifiers:
- MONDO: MONDO:0009925; MedGen: C1275116; Orphanet: 758; OMIM: 264800
-
M00081 (13)
Nucleotide
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Last Updated: Feb 14, 2024