NM_000410.4(HFE):c.760A>T (p.Lys254Ter) AND Hereditary hemochromatosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003051883.2
Allele description [Variation Report for NM_000410.4(HFE):c.760A>T (p.Lys254Ter)]
NM_000410.4(HFE):c.760A>T (p.Lys254Ter)
Condition(s)
-
C0265326[trait identifier] AND "GenomeConnect - Invitae Patient I... (1)
C0265326[trait identifier] AND "GenomeConnect - Invitae Patient Insights Network"[submitter]SearchClinVar
-
Genome for Assembly (Select 12613151) (1)
Genome
-
GEO Profile Links for Gene (Select 1411) (1628)
GEO Profiles
-
PREDICTED: Homo sapiens TATA-box binding protein associated factor 4b (TAF4B), t...
PREDICTED: Homo sapiens TATA-box binding protein associated factor 4b (TAF4B), transcript variant X1, mRNAgi|2217317546|ref|XM_024451239.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024