NM_015330.6(SPECC1L):c.570G>A (p.Thr190=) AND Autosomal dominant Opitz G/BBB syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jul 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001810262.2
Allele description [Variation Report for NM_015330.6(SPECC1L):c.570G>A (p.Thr190=)]
NM_015330.6(SPECC1L):c.570G>A (p.Thr190=)
Condition(s)
-
genetic suppressor element 1 isoform X11 [Homo sapiens]
genetic suppressor element 1 isoform X11 [Homo sapiens]gi|2462548107|ref|XP_054235861.1|Protein
-
Homo sapiens chromosome 19, GRCh38.p14 Primary Assembly
Homo sapiens chromosome 19, GRCh38.p14 Primary Assemblygi|568815579|gnl|ASM:GCF_000001305| f|NC_000019.10||gpp|GPC_000001311.1||gnl|NCBI_GENOMES|19Nucleotide
-
Same, Any Tautomer for PubChem Compound (Select 1983) (20)
PubChem Compound
-
ERI1 exoribonuclease 3 isoform X5 [Homo sapiens]
ERI1 exoribonuclease 3 isoform X5 [Homo sapiens]gi|2462513488|ref|XP_054194657.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024