NM_000559.2(HBG1):c.161C>A (p.Ala54Asp) AND HEMOGLOBIN F (BEECH ISLAND)

Germline classification:: other (1 submission)
Last evaluated:: Jul 15, 2011
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:: RCV000016147.9

Allele description [Variation Report for NM_000559.2(HBG1):c.161C>A (p.Ala54Asp)]

NM_000559.2(HBG1):c.161C>A (p.Ala54Asp)

Genes:

LOC106099064:HBG1 recombination region [Gene]
HBG1:hemoglobin subunit gamma 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000559.2(HBG1):c.161C>A (p.Ala54Asp)

Other names:

A53D

HGVS:

NC_000011.10:g.5249522G>T
NG_000007.3:g.48094C>A
NG_042298.1:g.555G>T
NM_000559.3:c.161C>AMANE SELECT
NP_000550.2:p.Ala54Asp
NP_000550.2:p.Ala54Asp
HBG1:c.161C>A
NC_000011.9:g.5270752G>T
NM_000559.2:c.161C>A

Protein change:

A54D; ALA53ASP

Links:

HBVAR: 629; OMIM: 142200.0003; dbSNP: rs35746147

NCBI 1000 Genomes Browser:

rs35746147

Molecular consequence:

NM_000559.3:c.161C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN F (BEECH ISLAND)
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036415	OMIM	no assertion criteria provided	other (Jul 15, 2011)	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

SCV000036415

OMIM

no assertion criteria provided

other
(Jul 15, 2011)

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 F-Cobb or alpha(2)A gamma(2)37(C3)Trp----Gly.

Chen SS, Webber BB, Kutlar A, Wilson JB, Huisman TH.

Hemoglobin. 1985;9(6):617-9. No abstract available.

PubMed [citation]

PMID:: 2419280

Details of each submission

From OMIM, SCV000036415.1

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

Description

See Chen et al. (1985).

#	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: Nov 10, 2024

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