NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) AND multiple conditions
- Germline classification:
- no classifications from unflagged records (1 submission)
- Last evaluated:
- Dec 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001004387.2
Allele description [Variation Report for NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)]
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)
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
-
Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA
Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNAgi|319655715|ref|NM_000153.3|Nucleotide
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See more...Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001163359 | Baylor Genetics | flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (ACMG Guidelines, 2015) | Likely pathogenic | germline | clinical testing |
Last Updated: Mar 10, 2024