NM_003977.4(AIP):c.16G>A (p.Ala6Thr) AND Somatotroph adenoma
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003460124.1
Allele description [Variation Report for NM_003977.4(AIP):c.16G>A (p.Ala6Thr)]
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
Condition(s)
- Name:
- Somatotroph adenoma (PITA1)
- Synonyms:
- ISOLATED FAMILIAL SOMATOTROPINOMA; SOMATOTROPHINOMA, FAMILIAL; Pituitary tumor, growth hormone-secreting, somatic; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007052; MedGen: C4538355; Orphanet: 314777; Orphanet: 963; OMIM: 102200
-
helix-turn-helix transcriptional regulator [Deinococcus gobiensis]
helix-turn-helix transcriptional regulator [Deinococcus gobiensis]gi|504499752|ref|WP_014686854.1|Protein
-
PREDICTED: Homo sapiens gem nuclear organelle associated protein 8 (GEMIN8), tra...
PREDICTED: Homo sapiens gem nuclear organelle associated protein 8 (GEMIN8), transcript variant X3, misc_RNAgi|1370519434|ref|XR_950466.3|Nucleotide
-
txid5580[Organism] (3)
GEO DataSets
-
non-homologous end-joining factor 1 isoform 2 [Mus musculus]
non-homologous end-joining factor 1 isoform 2 [Mus musculus]gi|2783007197|ref|NP_001419683.1|Protein
-
kelch domain containing 7B [Homo sapiens]
kelch domain containing 7B [Homo sapiens]gi|23821017|ref|NP_612442.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Dec 30, 2023