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
-
3-oxo-5-beta-steroid 4-dehydrogenase isoform X2 [Eumetopias jubatus]
3-oxo-5-beta-steroid 4-dehydrogenase isoform X2 [Eumetopias jubatus]gi|1570446810|ref|XP_027962177.1|Protein
-
Crepis ramosissima (110)
Taxonomy
-
Homo sapiens transmembrane protein 54 (TMEM54), transcript variant 4, mRNA
Homo sapiens transmembrane protein 54 (TMEM54), transcript variant 4, mRNAgi|1676319005|ref|NM_001329724.2|Nucleotide
-
MULTISPECIES: aspartate aminotransferase family protein [Rahnella]
MULTISPECIES: aspartate aminotransferase family protein [Rahnella]gi|503343471|ref|WP_013578132.1|Protein
-
Uma scoparia aryl hydrocarbon receptor (AHR) gene, partial cds
Uma scoparia aryl hydrocarbon receptor (AHR) gene, partial cdsgi|341931266|gb|JF818308.1|Nucleotide
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Last Updated: Jun 23, 2024