NM_020631.6(PLEKHG5):c.1471T>A (p.Tyr491Asn) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 25, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001372236.6
Allele description
NM_020631.6(PLEKHG5):c.1471T>A (p.Tyr491Asn)
Condition(s)
- Name:
- Neuronopathy, distal hereditary motor, autosomal recessive 4
- Synonyms:
- Distal spinal muscular atrophy, autosomal recessive 4; Autosomal recessive lower motor neuron disease with childhood onset; NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 4
- Identifiers:
- MONDO: MONDO:0012608; MedGen: C1970211; Orphanet: 206580; OMIM: 611067
-
translocon-associated protein subunit gamma isoform 3 [Homo sapiens]
translocon-associated protein subunit gamma isoform 3 [Homo sapiens]gi|815891070|ref|NP_001295134.1|Protein
-
Homo sapiens serpin family A member 5 (SERPINA5), mRNA
Homo sapiens serpin family A member 5 (SERPINA5), mRNAgi|1519316425|ref|NM_000624.6|Nucleotide
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Last Updated: Mar 5, 2024