NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys) AND Autosomal recessive inherited pseudoxanthoma elasticum
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Mar 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000023277.6
Allele description [Variation Report for NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys)]
NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys)
Condition(s)
-
Chst15 [Nannospalax galili]
Chst15 [Nannospalax galili]Gene ID:103729255Gene
-
Gene Links for GEO Profiles (Select 125842255) (2)
Gene
-
LRRC37A5P leucine rich repeat containing 37 member A5, pseudogene [Homo sapiens]
LRRC37A5P leucine rich repeat containing 37 member A5, pseudogene [Homo sapiens]Gene ID:652972Gene
-
Gene Links for GEO Profiles (Select 58693273) (1)
Gene
-
SHOC1 shortage in chiasmata 1 [Homo sapiens]
SHOC1 shortage in chiasmata 1 [Homo sapiens]Gene ID:158401Gene
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024