NM_000132.4(F8):c.4828G>T (p.Ala1610Ser) AND Thrombophilia, X-linked, due to factor 8 defect
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002249958.1
Allele description [Variation Report for NM_000132.4(F8):c.4828G>T (p.Ala1610Ser)]
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser)
Condition(s)
-
Taxonomy Links for PopSet (Select 526132184) (29)
Taxonomy
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Protein Links for PopSet (Select 548577591) (20)
Protein
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Homo sapiens zinc finger and SCAN domain containing 29, mRNA (cDNA clone IMAGE:3...
Homo sapiens zinc finger and SCAN domain containing 29, mRNA (cDNA clone IMAGE:3344281), partial cdsgi|38014021|gb|BC017179.2|Nucleotide
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Archangiaceae gyrase B (gyrB) gene, partial cds.
Archangiaceae gyrase B (gyrB) gene, partial cds.PopSet: 1052231497PopSet
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Cystobacterineae 16S ribosomal RNA gene, partial sequence.
Cystobacterineae 16S ribosomal RNA gene, partial sequence.PopSet: 751935514PopSet
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024