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NM_000518.5(HBB):c.394C>G (p.Gln132Glu) AND HEMOGLOBIN CAMDEN

Germline classification:
other (1 submission)
Last evaluated:
Apr 1, 1980
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:
RCV002280781.9

Allele description [Variation Report for NM_000518.5(HBB):c.394C>G (p.Gln132Glu)]

NM_000518.5(HBB):c.394C>G (p.Gln132Glu)

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_000518.5(HBB):c.394C>G (p.Gln132Glu)
Other names:
Q131E; Hb Camden; Hb Motown; Hb Tokuchi
HGVS:
  • NC_000011.10:g.5225648G>C
  • NG_000007.3:g.71968C>G
  • NG_046672.1:g.3583G>C
  • NG_053049.1:g.1969G>C
  • NG_059281.1:g.6424C>G
  • NM_000518.5:c.394C>GMANE SELECT
  • NP_000509.1:p.Gln132Glu
  • LRG_1232t1:c.394C>G
  • LRG_1232:g.6424C>G
  • LRG_1232p1:p.Gln132Glu
  • NC_000011.9:g.5246878G>C
  • NM_000518.4:c.394C>G
Protein change:
Q132E; GLN131GLU
Links:
HBVAR: 535; OMIM: 141900.0041; dbSNP: rs33910209
NCBI 1000 Genomes Browser:
rs33910209
Molecular consequence:
  • NM_000518.5:c.394C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN CAMDEN
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036558OMIM
no assertion criteria provided
other
(Apr 1, 1980) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Gibb, E. A. Increased subunit association of a new superstable variant hemoglobin Motown. Clin. Res. 29: 795A, 1981. Note: Sponsored by D. L. Rucknagel.

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Haemoglobin variant in a Bushman: haemoglobin D-beta-Bushman-alpha-beta-22-16-gly-arg.

Wade PT, Jenkins T, Huehns ER.

Nature. 1967 Nov 18;216(5116):688-90. No abstract available.

PubMed [citation]
PMID:
6082467

Two new sickle cell syndromes: HbS, Hb Camden, and alpha-thalassemia; and HbS in combination with Hb Tacoma.

Honig GR, Mason RG, Shamsuddin M, Vida LN, Rao KR, Patel AR.

Blood. 1980 Apr;55(4):655-60.

PubMed [citation]
PMID:
7357091
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000036558.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

See Wade Cohen et al. (1973) and Honig et al. (1980). Hmoglobin Motown was formerly thought to be a change at beta 127 (Gibb, 1981). See Ohba et al. (1975); hemoglobin Tokuchi was formerly thought to be a substitution of tyrosine for histidine at beta 2 (Shibata et al., 1963).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024