NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) AND not specified
- Germline classification:
- Benign/Likely benign (3 submissions)
- Last evaluated:
- Oct 5, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000079188.15
Allele description [Variation Report for NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)]
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
zinc finger protein 668 isoform a [Homo sapiens]
zinc finger protein 668 isoform a [Homo sapiens]gi|289547684|ref|NP_001166141.1|Protein
-
putative beta-glucosidase [uncultured bacterium]
putative beta-glucosidase [uncultured bacterium]gi|359755024|gb|AEV59721.1|Protein
-
LOC117227638 [Megalopta genalis]
LOC117227638 [Megalopta genalis]Gene ID:117227638Gene
-
NTNG1 [Pipistrellus kuhlii]
NTNG1 [Pipistrellus kuhlii]Gene ID:118727171Gene
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024