NM_000431.4(MVK):c.1005C>T (p.Gly335=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000685302.9
Allele description [Variation Report for NM_000431.4(MVK):c.1005C>T (p.Gly335=)]
NM_000431.4(MVK):c.1005C>T (p.Gly335=)
Condition(s)
- Name:
- Mevalonic aciduria (MEVA)
- Identifiers:
- MONDO: MONDO:0012481; MedGen: C1959626; Orphanet: 29; OMIM: 610377
- Name:
- Porokeratosis 3, disseminated superficial actinic type (POROK3)
- Synonyms:
- POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; POROKERATOSIS 3, MULTIPLE TYPES; POROKERATOSIS 3, MIBELLI TYPE
- Identifiers:
- MONDO: MONDO:0008293; MedGen: C1867981; OMIM: 175900
- Name:
- Hyperimmunoglobulin D with periodic fever (HIDS)
- Synonyms:
- Hyperimmunoglobulinemia D and periodic fever syndrome; Periodic fever Dutch type; Hyperimmunoglobulinemia D; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009849; MedGen: C0398691; Orphanet: 343; OMIM: 260920
-
SRR1658699 (1)
SRA
-
Homo sapiens cDNA FLJ25530 fis, clone CBR07652
Homo sapiens cDNA FLJ25530 fis, clone CBR07652gi|21758399|dbj|AK098396.1|Nucleotide
-
Trypanosoma brucei mRNA fragment encoding variable surface antigen of the Texan ...
Trypanosoma brucei mRNA fragment encoding variable surface antigen of the Texan trypanozoon antigen type (TXTat). This is TXTat 1gi|10559|emb|V01391.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024