NM_020631.5(PLEKHG5):c.*573G>A AND Neuronopathy, distal hereditary motor, autosomal recessive 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001096223.13
Allele description [Variation Report for NM_020631.5(PLEKHG5):c.*573G>A]
NM_020631.5(PLEKHG5):c.*573G>A
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
-
PREDICTED: Homo sapiens family with sequence similarity 72 member D (FAM72D), tr...
PREDICTED: Homo sapiens family with sequence similarity 72 member D (FAM72D), transcript variant X6, mRNAgi|2217270662|ref|XM_047429821.1|Nucleotide
-
protein FAM72D isoform X1 [Homo sapiens]
protein FAM72D isoform X1 [Homo sapiens]gi|2217270656|ref|XP_047285762.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Aug 25, 2024