NM_207122.2(EXT2):c.1080-18T>A AND Seizures-scoliosis-macrocephaly syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Aug 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001701545.2
Allele description [Variation Report for NM_207122.2(EXT2):c.1080-18T>A]
NM_207122.2(EXT2):c.1080-18T>A
Condition(s)
-
SAMN41013645 (1)
SRA
-
txid1590[orgn] AND "strain XSBN-10"[All Fields] (131)
Nucleotide
-
Homo sapiens solute carrier family 7 member 2 (SLC7A2), RefSeqGene on chromosome...
Homo sapiens solute carrier family 7 member 2 (SLC7A2), RefSeqGene on chromosome 8gi|2301847339|ref|NG_030355.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 10, 2024