NM_001692.4(ATP6V1B1):c.231C>T (p.Ser77=) AND Renal tubular acidosis with progressive nerve deafness
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002506570.1
Allele description [Variation Report for NM_001692.4(ATP6V1B1):c.231C>T (p.Ser77=)]
NM_001692.4(ATP6V1B1):c.231C>T (p.Ser77=)
Condition(s)
- Name:
- Renal tubular acidosis with progressive nerve deafness
- Synonyms:
- RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS; RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PROGRESSIVE NERVE DEAFNESS; RTA WITH PROGRESSIVE NERVE DEAFNESS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009968; MedGen: C0403554; OMIM: 267300
-
Gm35271 predicted gene, 35271 [Mus musculus]
Gm35271 predicted gene, 35271 [Mus musculus]Gene ID:102638792Gene
-
Gm35271 AND (alive[prop]) (1)
Gene
-
Gm26255 AND (alive[prop]) (2)
Gene
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Last Updated: Sep 29, 2024