NM_000184.3(HBG2):c.64G>C (p.Glu22Gln) AND HEMOGLOBIN F (FUCHU)

Germline classification:: other (1 submission)
Last evaluated:: Aug 18, 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:: RCV000016103.4

Allele description [Variation Report for NM_000184.3(HBG2):c.64G>C (p.Glu22Gln)]

NM_000184.3(HBG2):c.64G>C (p.Glu22Gln)

Genes:

LOC106099065:HBG2 recombination region [Gene]
HBG2:hemoglobin subunit gamma 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000184.3(HBG2):c.64G>C (p.Glu22Gln)

Other names:

E21Q; Hb F-Fuchu

HGVS:

NC_000011.10:g.5254665C>G
NG_000007.3:g.42951G>C
NG_042299.1:g.779C>G
NM_000184.3:c.64G>CMANE SELECT
NP_000175.1:p.Glu22Gln
NC_000011.9:g.5275895C>G
NM_000184.2:c.64G>C
P69892:p.Glu22Gln

Protein change:

E22Q; GLU21GLN

Links:

HBVAR: 587; UniProtKB: P69892#VAR_003134; OMIM: 142250.0007; dbSNP: rs33955330

NCBI 1000 Genomes Browser:

rs33955330

Molecular consequence:

NM_000184.3:c.64G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN F (FUCHU)
Identifiers:

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Chain A, MHC CLASS II-ASSOCIATED P41 INVARIANT CHAIN FRAGMENT (P41icf)
Chain A, MHC CLASS II-ASSOCIATED P41 INVARIANT CHAIN FRAGMENT (P41icf)
gi|2200753709|pdb|1L3H|A

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036371	OMIM	no assertion criteria provided	other (Aug 18, 2016)	germline	literature only	Hayashi, A., Wada, Y., Matsuo, T., Katakuse, I., Matsuda, H. Neonatal screening and mass spectrometric analysis of haemoglobin variants in Japan. (Abstract) Haemoglobin Research and Applications Symposium, England 1986.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036371

OMIM

no assertion criteria provided

other
(Aug 18, 2016)

germline

literature only

Hayashi, A., Wada, Y., Matsuo, T., Katakuse, I., Matsuda, H. Neonatal screening and mass spectrometric analysis of haemoglobin variants in Japan. (Abstract) Haemoglobin Research and Applications Symposium, England 1986.

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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, SCV000036371.3

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

Description

See Hayashi et al. (1986).

#	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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