NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002487455.1
Allele description [Variation Report for NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu)]
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu)
Condition(s)
- Name:
- Cerebrooculofacioskeletal syndrome 2 (COFS2)
- Identifiers:
- MONDO: MONDO:0012553; MedGen: C1853102; OMIM: 610756
- Name:
- Xeroderma pigmentosum, group D (XPD)
- Synonyms:
- XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XERODERMA PIGMENTOSUM IV; XP, GROUP D; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010212; MedGen: C0268138; OMIM: 278730
-
Homo sapiens keratin associated protein 22-1, mRNA (cDNA clone MGC:126731 IMAGE:...
Homo sapiens keratin associated protein 22-1, mRNA (cDNA clone MGC:126731 IMAGE:8069188), complete cdsgi|75516698|gb|BC101682.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024