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NM_002868.4(RAB5B):c.406G>C (p.Asp136His) AND RAB5B-associated surfactant dysfunction disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 10, 2019
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:
RCV001837728.2

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]
Observations:
1

Condition(s)

Name:
RAB5B-associated surfactant dysfunction disorder
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002098342Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jan 10, 2019)
de novoclinical testing

PubMed (2)
[]

Last Updated: Dec 24, 2023

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