NM_000518.5(HBB):c.236T>G (p.Leu79Arg) AND HEMOGLOBIN QUIN-HAI

Germline classification:: other (1 submission)
Last evaluated:: Jan 1, 1983
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:: RCV000016554.5

Allele description [Variation Report for NM_000518.5(HBB):c.236T>G (p.Leu79Arg)]

NM_000518.5(HBB):c.236T>G (p.Leu79Arg)

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.236T>G (p.Leu79Arg)

Other names:

L78R

HGVS:

NC_000011.10:g.5226656A>C
NG_000007.3:g.70960T>G
NG_042296.1:g.187A>C
NG_046672.1:g.4591A>C
NG_053049.1:g.2977A>C
NG_059281.1:g.5416T>G
NM_000518.5:c.236T>GMANE SELECT
NP_000509.1:p.Leu79Arg
LRG_1232t1:c.236T>G
LRG_1232:g.5416T>G
LRG_1232p1:p.Leu79Arg
NC_000011.9:g.5247886A>C
P68871:p.Leu79Arg

Protein change:

L79R; LEU78ARG

Links:

UniProtKB: P68871#VAR_002982; OMIM: 141900.0229; dbSNP: rs34870172

NCBI 1000 Genomes Browser:

rs34870172

Molecular consequence:

NM_000518.5:c.236T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN QUIN-HAI
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036822	OMIM	no assertion criteria provided	other (Jan 1, 1983)	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

SCV000036822

OMIM

no assertion criteria provided

other
(Jan 1, 1983)

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

Hemoglobin Quin-Hai, beta 78 (EF2) Leu replaced by Arg, a new abnormal hemoglobin found in Guangdong, China.

Jen PC, Chen LC, Chen PF, Wong Y, Chen LF, Guo YY, Chang FQ, Chow YC, Chiu Y.

Hemoglobin. 1983;7(5):407-12.

PubMed [citation]

PMID:: 6629822

Details of each submission

From OMIM, SCV000036822.5

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

Description

See Jen et al. (1983).

#	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: Jun 9, 2024

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