NM_000325.6(PITX2):c.429T>A (p.Arg143=) AND PITX2-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003951716.2
Allele description [Variation Report for NM_000325.6(PITX2):c.429T>A (p.Arg143=)]
NM_000325.6(PITX2):c.429T>A (p.Arg143=)
Condition(s)
- Name:
- PITX2-related disorder
- Synonyms:
- PITX2-related condition
- Identifiers:
-
uncharacterized protein YDR003W-A [Saccharomyces cerevisiae S288C]
uncharacterized protein YDR003W-A [Saccharomyces cerevisiae S288C]gi|398364947|ref|NP_878061.3|Protein
-
Furipterus horrens clone Fhor5b LINE 1, complete sequence
Furipterus horrens clone Fhor5b LINE 1, complete sequencegi|1783286023|gb|MK991590.1|Nucleotide
-
Rattus norvegicus cAMP-regulated phosphoprotein 19 (Arpp19), transcript variant ...
Rattus norvegicus cAMP-regulated phosphoprotein 19 (Arpp19), transcript variant 1, mRNAgi|2075472676|ref|NM_001395717.1|Nucleotide
-
RecName: Full=Protein FAM223A; AltName: Full=SPCX
RecName: Full=Protein FAM223A; AltName: Full=SPCXgi|73620724|sp|Q8IWN6.1|F223A_HUMANProtein
-
Danio rerio zgc:112032, mRNA (cDNA clone MGC:112032 IMAGE:7408403), complete cds
Danio rerio zgc:112032, mRNA (cDNA clone MGC:112032 IMAGE:7408403), complete cdsgi|63100874|gb|BC095650.1|Nucleotide
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Last Updated: Oct 13, 2024