NM_213599.3(ANO5):c.2117G>T (p.Arg706Leu) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003097778.3
Allele description [Variation Report for NM_213599.3(ANO5):c.2117G>T (p.Arg706Leu)]
NM_213599.3(ANO5):c.2117G>T (p.Arg706Leu)
Condition(s)
- Name:
- Gnathodiaphyseal dysplasia (GDD)
- Synonyms:
- GNATHODIAPHYSEAL SCLEROSIS; Osteogenesis imperfecta Levin type; Levin syndrome 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008151; MedGen: C1833736; OMIM: 166260
-
gamma-aminobutyric acid receptor subunit rho-2 precursor [Homo sapiens]
gamma-aminobutyric acid receptor subunit rho-2 precursor [Homo sapiens]gi|406035350|ref|NP_002034.3|Protein
-
dab24g02.y1 NICHD_XGC_Sp1 Xenopus laevis cDNA clone IMAGE:4175426 5' similar to ...
dab24g02.y1 NICHD_XGC_Sp1 Xenopus laevis cDNA clone IMAGE:4175426 5' similar to SW:SDF1_FELCA O62657 STROMAL CELL-DERIVED FACTOR 1 PRECURSOR, mRNA sequencegi|13314718|gnl|dbEST|8129953|gb|BG 9.1|Nucleotide
-
Chain B, Ribonuclease H1
Chain B, Ribonuclease H1gi|160285888|pdb|2QKK|BProtein
-
Chain D, Hybrid-binding domain of human RNase H1 in complex with 12-mer RNA/DNA
Chain D, Hybrid-binding domain of human RNase H1 in complex with 12-mer RNA/DNAgi|170785163|pdb|3BSU|DNucleotide
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Last Updated: Sep 29, 2024