ClinVar

NM_000141.5(FGFR2):c.1239G>A (p.Pro413=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 121515165 (on Assembly GRCh38)
• Chr10: 123274679 (on Assembly GRCh37)

Preferred name:

NM_000141.5(FGFR2):c.1239G>A (p.Pro413=)

HGVS:

• NC_000010.11:g.121515165C>T
• NG_012449.2:g.88294G>A
• NM_000141.5:c.1239G>AMANE SELECT
• NM_001144913.1:c.1242G>A
• NM_001144914.1:c.903G>A
• NM_001144915.2:c.972G>A
• NM_001144916.2:c.894G>A
• NM_001144917.2:c.939+4814G>A
• NM_001144918.2:c.894G>A
• NM_001144919.2:c.975G>A
• NM_001320654.2:c.555G>A
• NM_001320658.2:c.1239G>A
• NM_022969.1:c.1242G>A
• NM_022970.4:c.1242G>A
• NM_023029.2:c.972G>A
• NP_000132.3:p.Pro413=
• NP_000132.3:p.Pro413=
• NP_001138385.1:p.Pro414=
• NP_001138386.1:p.Pro301=
• NP_001138387.1:p.Pro324=
• NP_001138388.1:p.Pro298=
• NP_001138390.1:p.Pro298=
• NP_001138391.1:p.Pro325=
• NP_001307583.1:p.Pro185=
• NP_001307587.1:p.Pro413=
• NP_075258.1:p.Pro414=
• NP_075259.4:p.Pro414=
• NP_075259.4:p.Pro414=
• NP_075418.1:p.Pro324=
• LRG_994t1:c.1239G>A
• LRG_994t2:c.1242G>A
• LRG_994:g.88294G>A
• LRG_994p1:p.Pro413=
• LRG_994p2:p.Pro414=
• NC_000010.10:g.123274679C>T
• NM_000141.4:c.1239G>A
• NM_022970.3:c.1242G>A
• NR_073009.2:n.1675G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs147674677

NCBI 1000 Genomes Browser:

rs147674677

Molecular consequence:

• NM_001144917.2:c.939+4814G>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_073009.2:n.1675G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000141.5:c.1239G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144913.1:c.1242G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144914.1:c.903G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144915.2:c.972G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144916.2:c.894G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144918.2:c.894G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144919.2:c.975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320654.2:c.555G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320658.2:c.1239G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022969.1:c.1242G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022970.4:c.1242G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_023029.2:c.972G>A - synonymous variant - [Sequence Ontology: SO:0001819]