NM_001098672.2(HEPHL1):c.3050A>G (p.Asp1017Gly) AND Pili torti-developmental delay-neurological abnormalities syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001375938.1
Allele description [Variation Report for NM_001098672.2(HEPHL1):c.3050A>G (p.Asp1017Gly)]
NM_001098672.2(HEPHL1):c.3050A>G (p.Asp1017Gly)
Condition(s)
-
SRP456400 (13)
SRA
-
Homo sapiens mRNA; cDNA DKFZp686C23231 (from clone DKFZp686C23231)
Homo sapiens mRNA; cDNA DKFZp686C23231 (from clone DKFZp686C23231)gi|34365341|emb|BX640987.1|Nucleotide
-
Chain T, ATP synthase subunit 9, mitochondrial
Chain T, ATP synthase subunit 9, mitochondrialgi|1897214791|pdb|6WTD|TProtein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023