NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001781381.4
Allele description [Variation Report for NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)]
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
MAG TPA_asm: Ignavibacteriaceae bacterium isolate CTOTU2299, whole genome shotgu...
MAG TPA_asm: Ignavibacteriaceae bacterium isolate CTOTU2299, whole genome shotgun sequencing projectgi|2678937913|tpg|DAIRCT000000000.1 CT010000000Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 12, 2024