NM_001146079.2(CLDN14):c.430G>A (p.Val144Met) AND Autosomal recessive nonsyndromic hearing loss 29
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 25, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001287748.8
Allele description [Variation Report for NM_001146079.2(CLDN14):c.430G>A (p.Val144Met)]
NM_001146079.2(CLDN14):c.430G>A (p.Val144Met)
Condition(s)
-
Tssr5694 AND (alive[prop]) (0)
Gene
-
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloropl...
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Halophila stipulacea]gi|2183475922|gb|UJR02084.1|Protein
-
maturase K, partial (chloroplast) [Halophila stipulacea]
maturase K, partial (chloroplast) [Halophila stipulacea]gi|2183475938|gb|UJR02092.1|Protein
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See more...Assertion and evidence details
Last Updated: Mar 26, 2023