NM_000108.5(DLD):c.951C>G (p.Pro317=) AND DLD-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003895442.2
Allele description [Variation Report for NM_000108.5(DLD):c.951C>G (p.Pro317=)]
NM_000108.5(DLD):c.951C>G (p.Pro317=)
Condition(s)
- Name:
- DLD-related disorder
- Synonyms:
- DLD-related condition; DLD-Related Disorders
- Identifiers:
-
Homo sapiens sphingomyelin phosphodiesterase 1 (SMPD1), transcript variant 1, mR...
Homo sapiens sphingomyelin phosphodiesterase 1 (SMPD1), transcript variant 1, mRNAgi|1519316288|ref|NM_000543.5|Nucleotide
-
Homo sapiens mRNA for keratin associated protein 3.2 (KRTAP3.2 gene)
Homo sapiens mRNA for keratin associated protein 3.2 (KRTAP3.2 gene)gi|12655437|emb|AJ406932.1|Nucleotide
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Last Updated: Oct 13, 2024