NM_000518.4(HBB):c.356T>G (p.Phe119Cys) AND HEMOGLOBIN HARROW

Germline classification:: other (1 submission)
Last evaluated:: Dec 12, 2017
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:: RCV000016841.3

Allele description [Variation Report for NM_000518.4(HBB):c.356T>G (p.Phe119Cys)]

NM_000518.4(HBB):c.356T>G (p.Phe119Cys)

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_000518.4(HBB):c.356T>G (p.Phe119Cys)

Other names:

F118C

HGVS:

NC_000011.10:g.5225686A>C
NG_000007.3:g.71930T>G
NG_046672.1:g.3621A>C
NG_053049.1:g.2007A>C
NG_059281.1:g.6386T>G
NM_000518.5:c.356T>GMANE SELECT
NP_000509.1:p.Phe119Cys
LRG_1232t1:c.356T>G
LRG_1232:g.6386T>G
LRG_1232p1:p.Phe119Cys
NC_000011.9:g.5246916A>C

Protein change:

F119C; PHE118CYS

Links:

HBVAR: 794; OMIM: 141900.0486; dbSNP: rs33928092

NCBI 1000 Genomes Browser:

rs33928092

Molecular consequence:

NM_000518.5:c.356T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN HARROW
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037111	OMIM	no assertion criteria provided	other (Dec 12, 2017)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037111

OMIM

no assertion criteria provided

other
(Dec 12, 2017)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Hb Harrow [beta118(GH1)Phe-->Cys]: a new neutral hemoglobin variant.

Henthorn JS, Wajcman H, Promé D, Riou J, Kister J, Baudin-Creuza V, Davies SC, Galactéros F.

Hemoglobin. 1999 Aug;23(3):273-9. No abstract available.

PubMed [citation]

PMID:: 10490141

Details of each submission

From OMIM, SCV000037111.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Henthorn et al. (1999) reported a new beta-globin variant, phe118 to cys, found in a newborn male of Indian Gujerati origin, living in the Harrow area of London, England. This variant was observed during a systematic program of neonatal screening. The mother also carried the abnormal hemoglobin.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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