NM_000420.2(KEL):c.578C>T (p.Thr193Met)

Variation ID: Help
17722
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign
Last evaluated:
Jun 1, 1996
Number of submission(s):
1
Condition(s):
KELL K/k BLOOD GROUP POLYMORPHISM
See supporting ClinVar records

Allele(s) Help

NM_000420.2(KEL):c.578C>T (p.Thr193Met)

Allele ID:
32761
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
  • Chr7: 142957921 (on Assembly GRCh38)
  • Chr7: 142655008 (on Assembly GRCh37)
Protein change:
T193M
HGVS:
  • NG_007492.1:g.9496C>T
  • NM_000420.2:c.578C>T
  • NC_000007.14:g.142957921G>A (GRCh38)
  • NP_000411.1:p.Thr193Met
  • NC_000007.13:g.142655008G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs8176058
Molecular consequence:
NM_000420.2:c.578C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.03122 (A)
  • GMAF 0.01240 (A)

1 Affected gene

Variant frequency in dbGaP Help

NM_000420.2(KEL):c.578C>T (p.Thr193Met)

GRCh37 Chr7:142655008
Called variantsPotential variants
Sample count1952 of 107882862 of 40903

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
Benign
(Jun 1, 1996)
no assertion criteria providedliterature only
  • KELL K/k BLOOD GROUP POLYMORPHISM
germlineOMIMSCV000039584.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Feb 17, 2016