NM_001199799.2(ILDR1):c.206C>A (p.Pro69His) AND Autosomal recessive nonsyndromic hearing loss 42
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002283615.1
Allele description [Variation Report for NM_001199799.2(ILDR1):c.206C>A (p.Pro69His)]
NM_001199799.2(ILDR1):c.206C>A (p.Pro69His)
Condition(s)
-
MAK male germ cell associated kinase [Homo sapiens]
MAK male germ cell associated kinase [Homo sapiens]Gene ID:4117Gene
-
Gene Links for Nucleotide (Select 1890274041) (1)
Gene
-
"Limb ataxia"[Clinical Features] OR 196692[uid] (69)
MedGen
-
Nucleotide INSDC for Assembly (Select 12888718) (0)
Nucleotide
-
NADH dehydrogenase subunit 5, partial (mitochondrion) [Anopheles funestus]
NADH dehydrogenase subunit 5, partial (mitochondrion) [Anopheles funestus]gi|73914289|gb|AAZ92020.1|Protein
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Last Updated: Sep 24, 2022