U.S. flag

An official website of the United States government

NM_002868.4(RAB5B):c.406G>C (p.Asp136His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 2, 2022
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV001843337.1

Allele description [Variation Report for NM_002868.4(RAB5B):c.406G>C (p.Asp136His)]

NM_002868.4(RAB5B):c.406G>C (p.Asp136His)

Gene:
RAB5B:RAB5B, member RAS oncogene family [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.2
Genomic location:
Preferred name:
NM_002868.4(RAB5B):c.406G>C (p.Asp136His)
Other names:
p.D136H
HGVS:
  • NC_000012.12:g.55990772G>C
  • NM_001252036.2:c.406G>C
  • NM_001252037.2:c.316-588G>C
  • NM_002868.4:c.406G>CMANE SELECT
  • NP_001238965.1:p.Asp136His
  • NP_002859.1:p.Asp136His
  • NC_000012.11:g.56384556G>C
  • NM_002868.3:c.406G>C
...more
Protein change:
D136H; ASP136HIS
Links:
OMIM: 179514.0001; dbSNP: rs2136490152
NCBI 1000 Genomes Browser:
rs2136490152
Molecular consequence:
  • NM_001252037.2:c.316-588G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001252036.2:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002868.4:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
dominant_negative_variant [Sequence Ontology: SO:0002052]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002102476OMIM
no assertion criteria provided
Uncertain significance
(Mar 2, 2022)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Last Updated: Dec 24, 2023

External link. Please review our privacy policy.