NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln) AND Platelet-type bleeding disorder 15
- Germline classification:
- Uncertain significance (2 submissions)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000034868.30
Allele description [Variation Report for NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln)]
NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln)
Condition(s)
-
angiopoietin-related protein 2 isoform X1 [Homo sapiens]
angiopoietin-related protein 2 isoform X1 [Homo sapiens]gi|578817250|ref|XP_006717093.1|Protein
-
photosystem II reaction center protein PsbM [Synechococcus sp. WH 7805]
photosystem II reaction center protein PsbM [Synechococcus sp. WH 7805]gi|88807799|ref|ZP_01123310.1||gnl| Z_AAOK|1099646010151_WH7805_06551Protein
-
Homo sapiens mRNA for CLCP1, complete cds
Homo sapiens mRNA for CLCP1, complete cdsgi|20330503|dbj|AB073146.1|Nucleotide
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Last Updated: May 7, 2024