U.S. flag

An official website of the United States government

NM_000558.3(HBA1):c.11C>T (p.Ser4Phe) AND HEMOGLOBIN DOUALA

Germline classification:
other (1 submission)
Last evaluated:
Jul 20, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000017224.11

Allele description [Variation Report for NM_000558.3(HBA1):c.11C>T (p.Ser4Phe)]

NM_000558.3(HBA1):c.11C>T (p.Ser4Phe)

Genes:
LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000558.3(HBA1):c.11C>T (p.Ser4Phe)
Other names:
S3F
HGVS:
  • NC_000016.10:g.176727C>T
  • NG_000006.1:g.37590C>T
  • NG_046166.1:g.2210C>T
  • NG_059186.1:g.5077C>T
  • NM_000558.5:c.11C>TMANE SELECT
  • NP_000549.1:p.Ser4Phe
  • LRG_1225t1:c.11C>T
  • HBA1:c.11C>T
  • LRG_1225:g.5077C>T
  • LRG_1225p1:p.Ser4Phe
  • NC_000016.9:g.226726C>T
  • NM_000558.3:c.11C>T
Protein change:
S4F; SER3PHE
Links:
HBVAR: 1112; OMIM: 141800.0205; dbSNP: rs35850071
NCBI 1000 Genomes Browser:
rs35850071
Molecular consequence:
  • NM_000558.5:c.11C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN DOUALA
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037496OMIM
no assertion criteria provided
other
(Jul 20, 2016) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Hb Douala [alpha3(A1)Ser --> Phe]: a new alpha1 gene mutation in a Cameroonian woman heterozygous for Hb S and a 3.7 kb deletional alpha-thalassemia.

Préhu C, Hanichi A, Yapo AP, Claparols C, Promé D, Riou J, Wajcman H.

Hemoglobin. 2001 Aug;25(3):323-9. No abstract available.

PubMed [citation]
PMID:
11570726

Details of each submission

From OMIM, SCV000037496.2

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

Description

In a woman from Cameroon, Prehu et al. (2001) identified a new hemoglobin variant, designated Hb Douala, with a C-to-T transition (TCT-TTT) in the HBA1 gene, resulting in a ser3-to-phe (S3F) amino acid substitution. The patient was also heterozygous for Hb S (141900.0243) and for a 3.7-kb deletional alpha-thalassemia.

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

Last Updated: May 1, 2024