NM_153676.4(USH1C):c.2371G>A (p.Glu791Lys) AND Usher syndrome type 1C
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 10, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001835594.1
Allele description [Variation Report for NM_153676.4(USH1C):c.2371G>A (p.Glu791Lys)]
NM_153676.4(USH1C):c.2371G>A (p.Glu791Lys)
Condition(s)
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protein capicua homolog isoform X26 [Homo sapiens]
protein capicua homolog isoform X26 [Homo sapiens]gi|2462564032|ref|XP_054176317.1|Protein
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NADP-dependent malic enzyme, mitochondrial isoform 1 [Homo sapiens]
NADP-dependent malic enzyme, mitochondrial isoform 1 [Homo sapiens]gi|239049447|ref|NP_001155058.1|Protein
-
Fungal sp. 104 MCS-2014 internal transcribed spacer 1, partial sequence; 5.8S ri...
Fungal sp. 104 MCS-2014 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequencegi|683419713|gb|KM374180.1|Nucleotide
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BioSample Links for BioProject (Select 242434) (3)
BioSample
-
BioSample Links for SRA (Select 1238757) (0)
BioSample
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Last Updated: Mar 26, 2023