NM_001384125.1(BLTP1):c.772C>T (p.Arg258Ter) AND Alkuraya-Kucinskas syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003146817.3
Allele description [Variation Report for NM_001384125.1(BLTP1):c.772C>T (p.Arg258Ter)]
NM_001384125.1(BLTP1):c.772C>T (p.Arg258Ter)
Condition(s)
-
Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA
Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNAgi|1675173216|ref|NM_207173.2|Nucleotide
-
Homo sapiens HSD5 mRNA, complete cds
Homo sapiens HSD5 mRNA, complete cdsgi|21360365|gb|AY099509.1|Nucleotide
-
ATP synthase F0 subunit 6 (mitochondrion) [Rhagoletis pomonella]
ATP synthase F0 subunit 6 (mitochondrion) [Rhagoletis pomonella]gi|2044005505|gb|QVT11134.1|Protein
-
Gluconobacter cerinus strain SY 02 RecA (recA) gene, partial cds
Gluconobacter cerinus strain SY 02 RecA (recA) gene, partial cdsgi|2694744428|gb|PP400768.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 16, 2024