NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter) AND Autosomal recessive nonsyndromic hearing loss 32
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Nov 5, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000223951.12
Allele description [Variation Report for NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter)]
NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter)
Condition(s)
-
"ISCA Site 6"[submitter] AND "TP53"[gene] (1)
ClinVar
-
GSE216886[ACCN] AND gsm[ETYP] (2)
GEO DataSets
-
LOC126863246 [Homo sapiens]
LOC126863246 [Homo sapiens]Gene ID:126863246Gene
-
Extra-abdominal umbilical vein varix
Extra-abdominal umbilical vein varixMedGen
-
Homo sapiens chromosome X, GRCh38.p14 Primary Assembly
Homo sapiens chromosome X, GRCh38.p14 Primary Assemblygi|568815575|gnl|ASM:GCF_000001305| |NC_000023.11||gpp|GPC_000001315.1||gnl|NCBI_GENOMES|23Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 12, 2024