ClinVar

NM_000141.5(FGFR2):c.109+13116T>C

Genes:

LOC124416922:Sharpr-MPRA regulatory region 287 [Gene]
FGFR2:fibroblast growth factor receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 121580593 (on Assembly GRCh38)
• Chr10: 123340107 (on Assembly GRCh37)

Preferred name:

NM_000141.5(FGFR2):c.109+13116T>C

HGVS:

• NC_000010.11:g.121580593A>G
• NG_012449.2:g.22866T>C
• NG_079138.2:g.479A>G
• NM_000141.5:c.109+13116T>CMANE SELECT
• NM_001144913.1:c.109+13116T>C
• NM_001144914.1:c.109+13116T>C
• NM_001144915.2:c.109+13116T>C
• NM_001144916.2:c.109+13116T>C
• NM_001144917.2:c.109+13116T>C
• NM_001144918.2:c.109+13116T>C
• NM_001144919.2:c.109+13116T>C
• NM_001320658.2:c.109+13116T>C
• NM_022970.4:c.109+13116T>C
• NM_023029.2:c.109+13116T>C
• LRG_994:g.22866T>C
• NC_000010.10:g.123340107A>G
• NG_079138.1:g.479A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs45631580

NCBI 1000 Genomes Browser:

rs45631580

Molecular consequence:

• NM_000141.5:c.109+13116T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144913.1:c.109+13116T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144914.1:c.109+13116T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144915.2:c.109+13116T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144916.2:c.109+13116T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144917.2:c.109+13116T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144918.2:c.109+13116T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144919.2:c.109+13116T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320658.2:c.109+13116T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_022970.4:c.109+13116T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_023029.2:c.109+13116T>C - intron variant - [Sequence Ontology: SO:0001627]