NM_000518.5(HBB):c.174C>A (p.Asn58Lys) AND HEMOGLOBIN G (FERRARA)

Clinical significance:other (Last evaluated: Dec 12, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000016347.4

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)

Name:
HEMOGLOBIN G (FERRARA)
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036615OMIMno assertion criteria providedother
(Dec 12, 2017)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Properties of hemoglobin G. Ferrara (beta57(E1) Asn replaced by Lys).

Giardina B, Brunori M, Antonini E, Tentori L.

Biochim Biophys Acta. 1978 May 24;534(1):1-6.

PubMed [citation]
PMID:
26414

Details of each submission

From OMIM, SCV000036615.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

See Giardina et al. (1978).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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