NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002500955.1
Allele description [Variation Report for NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His)]
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His)
Condition(s)
- Name:
- Autosomal recessive inherited pseudoxanthoma elasticum (PXE)
- Synonyms:
- Gronblad Strandberg syndrome
- Identifiers:
- MONDO: MONDO:0009925; MedGen: C1275116; Orphanet: 758; OMIM: 264800
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Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 14...
Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 14, mRNAgi|1676440329|ref|NM_001326302.2|Nucleotide
-
Rattus norvegicus cytochrome P450 CYP2B21 mRNA, complete cds
Rattus norvegicus cytochrome P450 CYP2B21 mRNA, complete cdsgi|15826837|gb|AF159245.2|Nucleotide
-
KIRREL2 [Dasypus novemcinctus]
KIRREL2 [Dasypus novemcinctus]Gene ID:105746736Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024