NM_001199799.2(ILDR1):c.1032del (p.Thr345fs) AND Hearing loss, autosomal recessive
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001291341.1
Allele description [Variation Report for NM_001199799.2(ILDR1):c.1032del (p.Thr345fs)]
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs)
Condition(s)
- Name:
- Hearing loss, autosomal recessive
- Synonyms:
- Deafness, autosomal recessive; Autosomal recessive nonsyndromic deafness; Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019588; MedGen: C1846647; Orphanet: 90635; Orphanet: 90636; OMIM: 607197; OMIM: PS220290
Assertion and evidence details
Last Updated: Jul 29, 2024