NM_005236.3(ERCC4):c.974-7G>A AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001520608.6
Allele description
NM_005236.3(ERCC4):c.974-7G>A
Condition(s)
- Name:
- Xeroderma pigmentosum, group F (XPF)
- Synonyms:
- XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XERODERMA PIGMENTOSUM VI; XP, GROUP F; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010215; MedGen: C0268140; OMIM: 278760
- Name:
- Cockayne syndrome
- Synonyms:
- Cockayne's syndrome; Dwarfism-retinal atrophy-deafness syndrome; Progeria-like syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0016006; MedGen: C0009207
-
Pseudomonas sp. JS3066
Pseudomonas sp. JS3066Pseudomonas sp. JS3066 Genome sequencingBioProject
-
tyrosine-protein kinase JAK1 isoform 1 [Mus musculus]
tyrosine-protein kinase JAK1 isoform 1 [Mus musculus]gi|111607496|ref|NP_666257.2|Protein
-
msh homeobox 1 [Homo sapiens]
msh homeobox 1 [Homo sapiens]gi|4505267|ref|NP_002439.1|Protein
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See more...Assertion and evidence details
Last Updated: Mar 10, 2024