NM_001130823.3(DNMT1):c.3184G>A (p.Asp1062Asn) AND Hereditary sensory neuropathy-deafness-dementia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002570697.3
Allele description [Variation Report for NM_001130823.3(DNMT1):c.3184G>A (p.Asp1062Asn)]
NM_001130823.3(DNMT1):c.3184G>A (p.Asp1062Asn)
Condition(s)
-
Homo sapiens mRNA; cDNA DKFZp686G1922 (from clone DKFZp686G1922)
Homo sapiens mRNA; cDNA DKFZp686G1922 (from clone DKFZp686G1922)gi|51491272|emb|CR749847.1|Nucleotide
-
Homo sapiens mRNA for ETAA16 protein
Homo sapiens mRNA for ETAA16 proteingi|34582240|emb|AJ242682.2|Nucleotide
-
MERRF - GeneReviews®
MERRF - GeneReviews®
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024