NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln) AND Usher syndrome type 2A
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Nov 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000320048.8
Allele description [Variation Report for NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln)]
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln)
Condition(s)
-
Proboscidea parviflora subsp. gracillima voucher Rebman 7688 (SD) internal trans...
Proboscidea parviflora subsp. gracillima voucher Rebman 7688 (SD) internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequencegi|400234904|gb|JN686494.1|Nucleotide
-
281854[uid] AND (alive[prop]) (1)
Gene
-
IKBKB inhibitor of nuclear factor kappa B kinase subunit beta [Bos taurus]
IKBKB inhibitor of nuclear factor kappa B kinase subunit beta [Bos taurus]Gene ID:281854Gene
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Last Updated: Sep 29, 2024