NM_000518.5(HBB):c.174C>A (p.Asn58Lys) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Dec 19, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000506437.2

Allele description [Variation Report for NM_000518.5(HBB):c.174C>A (p.Asn58Lys)]

NM_000518.5(HBB):c.174C>A (p.Asn58Lys)

Genes:
LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.174C>A (p.Asn58Lys)
Other names:
N57K
HGVS:
  • NC_000011.10:g.5226718G>T
  • NG_000007.3:g.70898C>A
  • NG_042296.1:g.249G>T
  • NG_046672.1:g.4653G>T
  • NG_059281.1:g.5354C>A
  • NM_000518.5:c.174C>AMANE SELECT
  • NP_000509.1:p.Asn58Lys
  • LRG_1232t1:c.174C>A
  • LRG_1232:g.5354C>A
  • LRG_1232p1:p.Asn58Lys
  • NC_000011.9:g.5247948G>T
  • NM_000518.4:c.174C>A
  • P68871:p.Asn58Lys
Protein change:
N58K; ASN57LYS
Links:
UniProtKB: P68871#VAR_002948; OMIM: 141900.0082; dbSNP: rs35278874
NCBI 1000 Genomes Browser:
rs35278874
Molecular consequence:
  • NM_000518.5:c.174C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000603936ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Dec 19, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000603936.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 11, 2021

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