ClinVar

NM_000536.4(RAG2):c.104G>T (p.Gly35Val)

Gene:

RAG2:recombination activating 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p12

Genomic location:

• Chr11: 36594065 (on Assembly GRCh38)
• Chr11: 36615615 (on Assembly GRCh37)

Preferred name:

NM_000536.4(RAG2):c.104G>T (p.Gly35Val)

HGVS:

• NC_000011.10:g.36594065C>A
• NG_007573.1:g.9172G>T
• NG_033154.1:g.4573C>A
• NM_000536.4:c.104G>TMANE SELECT
• NM_001243785.2:c.104G>T
• NM_001243786.2:c.104G>T
• NP_000527.2:p.Gly35Val
• NP_001230714.1:p.Gly35Val
• NP_001230715.1:p.Gly35Val
• LRG_99:g.9172G>T
• NC_000011.9:g.36615615C>A
• NM_000536.3:c.104G>T

This HGVS expression did not pass validation

Protein change:

G35V

Links:

dbSNP: rs148508754

NCBI 1000 Genomes Browser:

rs148508754

Molecular consequence:

• NM_000536.4:c.104G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243785.2:c.104G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243786.2:c.104G>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

effect on catalytic protein function [Variation Ontology: 0008]