NM_000133.4(F9):c.122T>G (p.Leu41Arg) AND Hereditary factor IX deficiency disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001827212.1
Allele description [Variation Report for NM_000133.4(F9):c.122T>G (p.Leu41Arg)]
NM_000133.4(F9):c.122T>G (p.Leu41Arg)
Condition(s)
- Name:
- Hereditary factor IX deficiency disease (HEMB)
- Synonyms:
- F9 DEFICIENCY; PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY; Hemophilia B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010604; MeSH: D002836; MedGen: C0008533; Orphanet: 98879; OMIM: 306900
-
PREDICTED: Rattus norvegicus SMAD family member 3 (Smad3), transcript variant X3...
PREDICTED: Rattus norvegicus SMAD family member 3 (Smad3), transcript variant X3, mRNAgi|2678963226|ref|XM_008766216.4|Nucleotide
-
2011304A (0)
OMIM
-
cytochrome b, partial (mitochondrion) [Eadya paropsidis]
cytochrome b, partial (mitochondrion) [Eadya paropsidis]gi|1243285783|gb|ATB56433.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024