NM_006563.4(KLF1):c.862A>T (p.Lys288Ter)

Variation ID: Help
9003
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Sep 1, 2010
Number of submission(s):
1
Condition(s):
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, KLF1-RELATED
See supporting ClinVar records

Allele(s) Help

NM_006563.4(KLF1):c.862A>T (p.Lys288Ter)

Allele ID:
24042
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.13
Genomic location:
  • Chr19: 12885368 (on Assembly GRCh38)
  • Chr19: 12996182 (on Assembly GRCh37)
Protein change:
K288*
HGVS:
  • NG_013087.1:g.6836A>T
  • NM_006563.4:c.862A>T
  • NP_006554.1:p.Lys288Ter
  • NC_000019.10:g.12885368T>A (GRCh38)
  • NC_000019.9:g.12996182T>A (GRCh37)
  • NM_006563.3:c.862A>T
Links:
NCBI 1000 Genomes Browser:
rs267607202
Molecular consequence:
NM_006563.4:c.862A>T: nonsense [Sequence Ontology SO:0001587]

Variant frequency in dbGaP Help

NM_006563.4(KLF1):c.862A>T (p.Lys288Ter)

GRCh37 Chr19:12996182
Called variantsPotential variants
Sample countno data0 of 33512

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Sep 1, 2010)
no assertion criteria providedliterature only
  • HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, KLF1-RELATED
germlineOMIMSCV000029784.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Dec 6, 2016