NM_004004.6(GJB2):c.130_131del (p.Trp44fs) AND Autosomal recessive nonsyndromic hearing loss 1A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 21, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000664585.1
Allele description [Variation Report for NM_004004.6(GJB2):c.130_131del (p.Trp44fs)]
NM_004004.6(GJB2):c.130_131del (p.Trp44fs)
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
-
JGI_CAAN11487.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone CAAN11487 5', mR...
JGI_CAAN11487.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone CAAN11487 5', mRNA sequencegi|58717129|gnl|dbEST|27634290|gb|C 71.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023