NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000693435.10
Allele description [Variation Report for NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro)]
NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro)
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
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PREDICTED: Lingula anatina dnaJ homolog subfamily B member 6 (LOC106165368), tra...
PREDICTED: Lingula anatina dnaJ homolog subfamily B member 6 (LOC106165368), transcript variant X2, mRNAgi|1351403681|ref|XM_013543555.2|Nucleotide
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PREDICTED: Varanus komodoensis secreted frizzled related protein 1 (SFRP1), mRNA
PREDICTED: Varanus komodoensis secreted frizzled related protein 1 (SFRP1), mRNAgi|2118001514|ref|XM_044437368.1|Nucleotide
-
sphingomyelin phosphodiesterase 4 isoform X2 [Ornithorhynchus anatinus]
sphingomyelin phosphodiesterase 4 isoform X2 [Ornithorhynchus anatinus]gi|1626064892|ref|XP_028904835.1|Protein
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SAMN12651470 (1)
SRA
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Urocampus carinirostris haplotype 44 cytochrome b (cytb) gene, partial cds; mito...
Urocampus carinirostris haplotype 44 cytochrome b (cytb) gene, partial cds; mitochondrial gene for mitochondrial productgi|8927149|gb|AF155469.1|Nucleotide
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Last Updated: Sep 29, 2024