NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter) AND AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 8, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000578263.5
Allele description [Variation Report for NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter)]
NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter)
Condition(s)
-
sludge sample
sludge samplesludge sample Raw sequence readsBioProject
-
myosin-binding protein H [Mus musculus]
myosin-binding protein H [Mus musculus]gi|56676318|ref|NP_058029.2|Protein
-
OT_ostta13g02520 [Ostreococcus tauri]
OT_ostta13g02520 [Ostreococcus tauri]Gene ID:34946343Gene
-
DLEC1 DLEC1 cilia and flagella associated protein [Homo sapiens]
DLEC1 DLEC1 cilia and flagella associated protein [Homo sapiens]Gene ID:9940Gene
-
Gene Links for Nucleotide (Select 1890274643) (1)
Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jun 23, 2024