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NM_000518.4(HBB):c.70G>T (p.Val24Phe)

Variation ID: Help
15306
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic, other
Last evaluated:
Dec 12, 2017
Number of submission(s):
2
Condition(s):
  • HEMOGLOBIN PALMERSTON NORTH
  • Erythrocytosis 6, familial [MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000518.4(HBB):c.70G>T (p.Val24Phe)

Allele ID:
30345
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
  • Chr11: 5226952 (on Assembly GRCh38)
  • Chr11: 5248182 (on Assembly GRCh37)
Protein change:
V23F, V24F
HGVS:
  • NG_000007.3:g.70664G>T
  • NG_059281.1:g.5120G>T
  • NM_000518.5:c.70G>T
  • NP_000509.1:p.Val24Phe
  • NC_000011.10:g.5226952C>A (GRCh38)
  • NC_000011.9:g.5248182C>A (GRCh37)
  • NM_000518.4:c.70G>T
  • P68871:p.Val24Phe
Links:
NCBI 1000 Genomes Browser:
rs33929459
Molecular consequence:
NM_000518.5:c.70G>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00001
  • The Genome Aggregation Database (gnomAD), exomes 0.00000

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
other
(Dec 12, 2017)
no assertion criteria providedliterature only
  • HEMOGLOBIN PALMERSTON NORTH
germlineOMIMSCV000036812.4
Pathogenic
(Jan 1, 1982)
no assertion criteria providedliterature onlygermlineOMIMSCV000763212.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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