NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs) AND Kleefstra syndrome 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003989661.1
Allele description [Variation Report for NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs)]
NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs)
Condition(s)
-
Gene Links for GEO Profiles (Select 91680599) (1)
Gene
-
GATA4 GATA binding protein 4 [Homo sapiens]
GATA4 GATA binding protein 4 [Homo sapiens]Gene ID:2626Gene
-
Homo sapiens GATA binding protein 4 (GATA4), transcript variant 1, mRNA
Homo sapiens GATA binding protein 4 (GATA4), transcript variant 1, mRNAgi|1797617039|ref|NM_001308093.3|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jul 7, 2024