NM_000165.5(GJA1):c.142G>A (p.Glu48Lys) AND Oculodentodigital dysplasia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 7, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001329666.1
Allele description [Variation Report for NM_000165.5(GJA1):c.142G>A (p.Glu48Lys)]
NM_000165.5(GJA1):c.142G>A (p.Glu48Lys)
Condition(s)
-
Homo sapiens CD55 molecule (Cromer blood group) (CD55), transcript variant 1, mR...
Homo sapiens CD55 molecule (Cromer blood group) (CD55), transcript variant 1, mRNAgi|665505986|ref|NM_000574.4|Nucleotide
-
BioSample links for Nucleotide (Select 2585985304) (1)
BioSample
-
Metagenome-Assembled Genome: SRR5395383_bin.15_MetaWRAP_v1.3_MAG
Metagenome-Assembled Genome: SRR5395383_bin.15_MetaWRAP_v1.3_MAGbiosample
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024