NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=) AND Autosomal recessive hypophosphatemic bone disease
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Sep 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002495828.2
Allele description [Variation Report for NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=)]
NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=)
Condition(s)
-
granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform ...
granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X6 [Homo sapiens]gi|2462628344|ref|XP_054182496.1|Protein
-
PREDICTED: Homo sapiens colony stimulating factor 2 receptor subunit alpha (CSF2...
PREDICTED: Homo sapiens colony stimulating factor 2 receptor subunit alpha (CSF2RA), transcript variant X1, mRNAgi|2217401113|ref|XM_047442710.1|Nucleotide
-
granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform ...
granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X5 [Homo sapiens]gi|2462631903|ref|XP_054184225.1|Protein
-
granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform ...
granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X3 [Homo sapiens]gi|2217401123|ref|XP_047298670.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 28, 2024