NM_002317.7(LOX):c.235G>A (p.Ala79Thr) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000755147.1
Allele description [Variation Report for NM_002317.7(LOX):c.235G>A (p.Ala79Thr)]
NM_002317.7(LOX):c.235G>A (p.Ala79Thr)
Condition(s)
- Name:
- Congenital aneurysm of ascending aorta (AAT1)
- Synonyms:
- AORTIC ANEURYSM, FAMILIAL THORACIC 1; Familial aortic dissection; Annuloaortic ectasia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024559; MedGen: C0345050; Orphanet: 229; OMIM: 607086
- Name:
- Acute aortic dissection
- Identifiers:
- MedGen: C0241868
-
Gene Links for Nucleotide (Select 374429540) (3)
Gene
-
Methylohalomonas lacus strain HMT 1 Ga0466805_23, whole genome shotgun sequence
Methylohalomonas lacus strain HMT 1 Ga0466805_23, whole genome shotgun sequencegi|2293819040|ref|NZ_JANUCT01000002 gnl|WGS:NZ_JANUCT01|Ga0466805_23Nucleotide
-
Homo sapiens protein phosphatase 1 regulatory subunit 10 (PPP1R10), transcript v...
Homo sapiens protein phosphatase 1 regulatory subunit 10 (PPP1R10), transcript variant 1, mRNAgi|1519311691|ref|NM_002714.4|Nucleotide
-
PREDICTED: Homo sapiens COMM domain containing 7 (COMMD7), transcript variant X2...
PREDICTED: Homo sapiens COMM domain containing 7 (COMMD7), transcript variant X2, mRNAgi|2462579618|ref|XM_054323081.1|Nucleotide
-
SH3 domain-containing kinase-binding protein 1 isoform b [Homo sapiens]
SH3 domain-containing kinase-binding protein 1 isoform b [Homo sapiens]gi|67514036|ref|NP_001019837.1|Protein
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Last Updated: May 12, 2024