NM_004004.6(GJB2):c.585G>C (p.Met195Ile) AND Autosomal recessive nonsyndromic hearing loss 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001810542.3
Allele description
NM_004004.6(GJB2):c.585G>C (p.Met195Ile)
Condition(s)
- Name:
- Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A)
- Synonyms:
- Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009076; MedGen: C2673759; Orphanet: 90636; OMIM: 220290
-
PMC Articles for PubChem Compound (Select 544) (541)
PMC
-
txid1797397[Organism:noexp] (3116)
Identical Protein Groups
-
Triaenops afer voucher FMNH 198145 acyl-CoA oxidase 2 (ACOX2) gene, intron 3
Triaenops afer voucher FMNH 198145 acyl-CoA oxidase 2 (ACOX2) gene, intron 3gi|1914847957|gb|MT777783.1|Nucleotide
-
Profile neighbors for GEO Profiles (Select 120313482) (200)
GEO Profiles
-
exodeoxyribonuclease V subunit alpha [Actinobacillus pleuropneumoniae]
exodeoxyribonuclease V subunit alpha [Actinobacillus pleuropneumoniae]gi|491782561|ref|WP_005596113.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 20, 2024