NM_001079802.2(FKTN):c.395del (p.Asn132fs) AND Walker-Warburg congenital muscular dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001953534.3
Allele description [Variation Report for NM_001079802.2(FKTN):c.395del (p.Asn132fs)]
NM_001079802.2(FKTN):c.395del (p.Asn132fs)
Condition(s)
-
XRCC6P1 X-ray repair cross complementing 6 pseudogene 1 [Homo sapiens]
XRCC6P1 X-ray repair cross complementing 6 pseudogene 1 [Homo sapiens]Gene ID:387703Gene
-
XRCC6P1 AND (alive[prop]) (1)
Gene
-
CYP24A1 cytochrome P450 family 24 subfamily A member 1 [Microcebus murinus]
CYP24A1 cytochrome P450 family 24 subfamily A member 1 [Microcebus murinus]Gene ID:105869419Gene
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See more...Assertion and evidence details
Last Updated: Mar 30, 2024