NM_000518.5(HBB):c.373C>T (p.Pro125Ser) AND HEMOGLOBIN TUNIS

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:
RCV000016631.4

Allele description [Variation Report for NM_000518.5(HBB):c.373C>T (p.Pro125Ser)]

NM_000518.5(HBB):c.373C>T (p.Pro125Ser)

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.373C>T (p.Pro125Ser)
Other names:
P124S
HGVS:
  • NC_000011.10:g.5225669G>A
  • NG_000007.3:g.71947C>T
  • NG_046672.1:g.3604G>A
  • NG_053049.1:g.1990G>A
  • NG_059281.1:g.6403C>T
  • NM_000518.5:c.373C>TMANE SELECT
  • NP_000509.1:p.Pro125Ser
  • LRG_1232t1:c.373C>T
  • LRG_1232:g.6403C>T
  • LRG_1232p1:p.Pro125Ser
  • NC_000011.9:g.5246899G>A
  • P68871:p.Pro125Ser
Protein change:
P125S; PRO124SER
Links:
UniProtKB: P68871#VAR_003054; OMIM: 141900.0288; dbSNP: rs35461710
NCBI 1000 Genomes Browser:
rs35461710
Molecular consequence:
  • NM_000518.5:c.373C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN TUNIS
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036900OMIMno 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

Hb Tunis [alpha 2 beta 2 124 (H2)Pro----Ser], a new beta chain variant identified by HPLC.

Mrad A, Blouquit Y, Lacombe C, Blibech R, Arous N, Bardakdjian J, Kastally R, Rosa J, Galacteros F.

Hemoglobin. 1988;12(1):23-30.

PubMed [citation]
PMID:
3384695

Details of each submission

From OMIM, SCV000036900.4

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

Description

See Mrad et al. (1988).

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

Last Updated: Sep 29, 2021

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