NM_002300.7(LDHB):c.19A>G (p.Lys7Glu)

Variation ID: Help
14564
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Affects
Last evaluated:
Jun 1, 1993
Number of submission(s):
1
Condition(s):
Lactate dehydrogenase B deficiency[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_002300.7(LDHB):c.19A>G (p.Lys7Glu)

Allele ID:
29603
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.1
Genomic location:
  • Chr12: 21654653 (on Assembly GRCh38)
  • Chr12: 21807587 (on Assembly GRCh37)
Protein change:
K6E, K7E
HGVS:
  • NG_017038.1:g.8203A>G
  • NM_002300.7:c.19A>G
  • NP_002291.1:p.Lys7Glu
  • NC_000012.12:g.21654653T>C (GRCh38)
  • NC_000012.11:g.21807587T>C (GRCh37)
  • NM_002300.6:c.19A>G
  • P07195:p.Lys7Glu
Links:
NCBI 1000 Genomes Browser:
rs118203897
Molecular consequence:
NM_002300.7:c.19A>G: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_002300.7(LDHB):c.19A>G (p.Lys7Glu)

GRCh37 Chr12:21807587
Called variantsPotential variants
Sample countno data2 of 44351

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
Affects
(Jun 1, 1993)
no assertion criteria providedliterature only
  • Lactate dehydrogenase B deficiency[MedGen | OMIM]
germlineOMIMSCV000035930.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 13, 2017