NM_003900.5(SQSTM1):c.327C>T (p.His109=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002099180.5
Allele description [Variation Report for NM_003900.5(SQSTM1):c.327C>T (p.His109=)]
NM_003900.5(SQSTM1):c.327C>T (p.His109=)
Condition(s)
-
alpha/beta hydrolase [Elizabethkingia anophelis]
alpha/beta hydrolase [Elizabethkingia anophelis]gi|1238339047|gb|ASV80258.1||gnl|PR 1221|A6J37_17495Protein
-
molecular chaperone MKKS [Homo sapiens]
molecular chaperone MKKS [Homo sapiens]gi|25914754|ref|NP_740754.1|Protein
-
RBM47 [Opisthocomus hoazin]
RBM47 [Opisthocomus hoazin]Gene ID:104330309Gene
-
ND4 [Amoya chusanensis]
ND4 [Amoya chusanensis]Gene ID:14658319Gene
-
FRA2B fragile site, folic acid type, rare, fra(2)(q13) [Homo sapiens]
FRA2B fragile site, folic acid type, rare, fra(2)(q13) [Homo sapiens]Gene ID:2374Gene
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024