NM_178012.5(TUBB2B):c.622T>A (p.Tyr208Asn) AND Complex cortical dysplasia with other brain malformations 7
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004556127.1
Allele description [Variation Report for NM_178012.5(TUBB2B):c.622T>A (p.Tyr208Asn)]
NM_178012.5(TUBB2B):c.622T>A (p.Tyr208Asn)
Condition(s)
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C-type lectin domain family 2 member D11 isoform X1 [Rattus norvegicus]
C-type lectin domain family 2 member D11 isoform X1 [Rattus norvegicus]gi|1958770336|ref|XP_038963830.1|Protein
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Homo sapiens small nucleolar RNA, H/ACA box 105C (SNORA105C), small nucleolar RN...
Homo sapiens small nucleolar RNA, H/ACA box 105C (SNORA105C), small nucleolar RNAgi|934636566|ref|NR_132789.1|Nucleotide
-
Rhagastis castor jordani isolate 2022JW1 cytochrome c oxidase subunit I (COX1) g...
Rhagastis castor jordani isolate 2022JW1 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrialgi|2689244822|gb|PP410213.1|Nucleotide
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PREDICTED: Andrographis paniculata mitochondrial carnitine/acylcarnitine carrier...
PREDICTED: Andrographis paniculata mitochondrial carnitine/acylcarnitine carrier-like protein (LOC127242148), transcript variant X1, mRNAgi|2320627539|ref|XM_051261561.1|Nucleotide
-
Stenotrophomonas sp. 439P1B 16S ribosomal RNA gene, partial sequence
Stenotrophomonas sp. 439P1B 16S ribosomal RNA gene, partial sequencegi|755532125|gb|KP739798.1|Nucleotide
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Last Updated: Jun 2, 2024