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
-
PREDICTED: Sus scrofa solute carrier family 39 member 5 (SLC39A5), transcript va...
PREDICTED: Sus scrofa solute carrier family 39 member 5 (SLC39A5), transcript variant X10, mRNAgi|1191882288|ref|XM_013988303.2|Nucleotide
-
Top1-AID 60min_Aux
Top1-AID 60min_Auxbiosample
-
PREDICTED: Homo sapiens atonal bHLH transcription factor 8 (ATOH8), transcript v...
PREDICTED: Homo sapiens atonal bHLH transcription factor 8 (ATOH8), transcript variant X6, mRNAgi|2217331577|ref|XM_047446094.1|Nucleotide
-
NADH dehydrogenase subunit 5, partial (mitochondrion) [Gyrinocheilus aymonieri]
NADH dehydrogenase subunit 5, partial (mitochondrion) [Gyrinocheilus aymonieri]gi|973693204|gb|ALX40150.1|Protein
-
Bursera graveolens voucher Tye 9750 (TEX) external transcribed spacer, partial s...
Bursera graveolens voucher Tye 9750 (TEX) external transcribed spacer, partial sequencegi|281324630|gb|GQ505946.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jun 23, 2024