NM_006593.4(TBR1):c.969+1G>C AND Autism, susceptibility to, 5
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001754566.2
Allele description [Variation Report for NM_006593.4(TBR1):c.969+1G>C]
NM_006593.4(TBR1):c.969+1G>C
Condition(s)
- Name:
- Autism, susceptibility to, 5 (IDDAS)
- Synonyms:
- INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY; AUTISM-RELATED SPEECH DELAY; PHRASE SPEECH DELAY, AUTISM-RELATED; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011627; MedGen: C1853755; OMIM: 606053
-
Bursera graveolens voucher Tye 9313 (TEX) tRNA-His (trnH) gene, partial sequence...
Bursera graveolens voucher Tye 9313 (TEX) tRNA-His (trnH) gene, partial sequence; psbA-trnH intergenic spacer, complete sequence; and PsbA (psbA) gene, partial cds; chloroplastgi|281494394|gb|GQ505930.1|Nucleotide
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Crepis ramosissima (9)
Identical Protein Groups
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Bifurcata zinc finger homeobox protein (ZEB2) gene, partial cds.
Bifurcata zinc finger homeobox protein (ZEB2) gene, partial cds.PopSet: 341932460PopSet
-
Taxonomy Links for Nucleotide (Select 2217321151) (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024