NM_000518.5(HBB):c.350A>G (p.His117Arg) AND HEMOGLOBIN P

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:
RCV000016538.5

Allele description [Variation Report for NM_000518.5(HBB):c.350A>G (p.His117Arg)]

NM_000518.5(HBB):c.350A>G (p.His117Arg)

Genes:
LOC110006319:beta-globin gene 3' regulatory 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.350A>G (p.His117Arg)
HGVS:
  • NC_000011.10:g.5225692T>C
  • NG_000007.3:g.71924A>G
  • NG_046672.1:g.3627T>C
  • NG_053049.1:g.2013T>C
  • NG_059281.1:g.6380A>G
  • NM_000518.5:c.350A>GMANE SELECT
  • NP_000509.1:p.His117Arg
  • LRG_1232t1:c.350A>G
  • LRG_1232:g.6380A>G
  • LRG_1232p1:p.His117Arg
  • NC_000011.9:g.5246922T>C
Protein change:
H117R; HIS117ARG
Links:
OMIM: 141900.0213; dbSNP: rs33978082
NCBI 1000 Genomes Browser:
rs33978082
Molecular consequence:
  • NM_000518.5:c.350A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN P
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036806OMIMno assertion criteria providedother
(Dec 12, 2017)
germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

HAEMOGLOBINS N AND P IN ITALIAN FAMILIES.

SILVESTRONI E, BIANCO I, BRANCATI C.

Nature. 1963 Nov 16;200:658-9. No abstract available.

PubMed [citation]
PMID:
14109943

Hemoglobin Cowtown (beta 146 HC3 His-Leu): a mutant with high oxygen affinity and erythrocytosis.

Schneider RG, Bremner JE, Brimhall B, Jones RT, Shih TB.

Am J Clin Pathol. 1979 Dec;72(6):1028-32.

PubMed [citation]
PMID:
42311
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000036806.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

See Silvestroni et al. (1963), Schneider et al. (1969), and Di Iorio et al. (1975).

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

Last Updated: Sep 29, 2021

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