ClinVar

NM_000141.5(FGFR2):c.454+14C>T

Gene:

FGFR2:fibroblast growth factor receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 121564488 (on Assembly GRCh38)
• Chr10: 123324002 (on Assembly GRCh37)

Preferred name:

NM_000141.5(FGFR2):c.454+14C>T

HGVS:

• NC_000010.11:g.121564488G>A
• NG_012449.2:g.38971C>T
• NM_000141.5:c.454+14C>TMANE SELECT
• NM_001144913.1:c.454+14C>T
• NM_001144914.1:c.454+14C>T
• NM_001144915.2:c.187+14C>T
• NM_001144916.2:c.110-13029C>T
• NM_001144917.2:c.454+14C>T
• NM_001144918.2:c.110-13029C>T
• NM_001144919.2:c.187+14C>T
• NM_001320658.2:c.454+14C>T
• NM_022970.4:c.454+14C>T
• NM_023029.2:c.187+14C>T
• LRG_994t1:c.454+14C>T
• LRG_994:g.38971C>T
• NC_000010.10:g.123324002G>A
• NC_000010.10:g.123324002G>A
• NM_000141.4:c.454+14C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs112142377

NCBI 1000 Genomes Browser:

rs112142377

Molecular consequence:

• NM_000141.5:c.454+14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144913.1:c.454+14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144914.1:c.454+14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144915.2:c.187+14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144916.2:c.110-13029C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144917.2:c.454+14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144918.2:c.110-13029C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144919.2:c.187+14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320658.2:c.454+14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_022970.4:c.454+14C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_023029.2:c.187+14C>T - intron variant - [Sequence Ontology: SO:0001627]