NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001223135.7
Allele description [Variation Report for NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys)]
NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys)
Condition(s)
- Name:
- Hereditary spastic paraplegia 8 (SPG8)
- Synonyms:
- SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; Spastic paraplegia 8
- Identifiers:
- MONDO: MONDO:0011339; MedGen: C1863704; Orphanet: 100989; OMIM: 603563
- Name:
- Ritscher-Schinzel syndrome (RTSC1)
- Synonyms:
- Dandy-Walker like malformation with atrioventricular septal defect; Cranio-cerebello-cardiac dysplasia; 3C syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019078; MedGen: C0796137; OMIM: PS220210
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chromo-helicase DNA-binding protein [Taeniopygia guttata]
chromo-helicase DNA-binding protein [Taeniopygia guttata]gi|118343651|ref|NP_001071646.1|Protein
-
melanoma-associated antigen B2 [Homo sapiens]
melanoma-associated antigen B2 [Homo sapiens]gi|222418639|ref|NP_002355.2|Protein
-
E3 ubiquitin-protein ligase TRIM33 isoform 1 [Mus musculus]
E3 ubiquitin-protein ligase TRIM33 isoform 1 [Mus musculus]gi|119637828|ref|NP_444400.2|Protein
-
Aspartate aminotransferase, putative [Streptococcus thermophilus ND03]
Aspartate aminotransferase, putative [Streptococcus thermophilus ND03]gi|312278949|gnl|zhongguo|STND_1571 DQ63606.1|Protein
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See more...Assertion and evidence details
Last Updated: May 1, 2024