NM_000558.3(HBA1):c.74A>G (p.Tyr25Cys) AND HEMOGLOBIN RAMONA

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:: RCV000017206.11

Allele description [Variation Report for NM_000558.3(HBA1):c.74A>G (p.Tyr25Cys)]

NM_000558.3(HBA1):c.74A>G (p.Tyr25Cys)

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.74A>G (p.Tyr25Cys)

Other names:

Y24C

HGVS:

NC_000016.10:g.176790A>G
NG_000006.1:g.37653A>G
NG_046166.1:g.2273A>G
NG_059186.1:g.5140A>G
NM_000558.5:c.74A>GMANE SELECT
NP_000549.1:p.Tyr25Cys
LRG_1225t1:c.74A>G
HBA1:c.74A>G
LRG_1225:g.5140A>G
LRG_1225p1:p.Tyr25Cys
NC_000016.9:g.226789A>G
NM_000558.3:c.74A>G

Protein change:

Y25C; TYR24CYS

Links:

HBVAR: 38; OMIM: 141800.0186; dbSNP: rs28928880

NCBI 1000 Genomes Browser:

rs28928880

Molecular consequence:

NM_000558.5:c.74A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN RAMONA
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037478	OMIM	no assertion criteria provided	other (Jul 20, 2016)	germline	literature only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037478

OMIM

no assertion criteria provided

other
(Jul 20, 2016)

germline

literature only

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

Details of each submission

From OMIM, SCV000037478.2

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

Description

Hb Ramona was accidentally detected by isoelectrofocusing in a pregnant woman of part Spanish descent; its mobility was slightly faster than that of Hb A. A TAT-to-TGT change was found at codon 24, corresponding to a replacement of tyrosine by cysteine.

#	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: Sep 8, 2024

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