ClinVar

NM_000141.5(FGFR2):c.924C>T (p.Tyr308=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 121519994 (on Assembly GRCh38)
• Chr10: 123279508 (on Assembly GRCh37)

Preferred name:

NM_000141.5(FGFR2):c.924C>T (p.Tyr308=)

HGVS:

• NC_000010.11:g.121519994G>A
• NG_012449.2:g.83465C>T
• NM_000141.5:c.924C>TMANE SELECT
• NM_001144913.1:c.924C>T
• NM_001144914.1:c.749-4675C>T
• NM_001144915.2:c.657C>T
• NM_001144916.2:c.579C>T
• NM_001144917.2:c.924C>T
• NM_001144918.2:c.579C>T
• NM_001144919.2:c.657C>T
• NM_001320654.2:c.240C>T
• NM_001320658.2:c.924C>T
• NM_022969.1:c.924C>T
• NM_022970.4:c.924C>T
• NM_023029.2:c.657C>T
• NP_000132.3:p.Tyr308=
• NP_000132.3:p.Tyr308=
• NP_001138385.1:p.Tyr308=
• NP_001138387.1:p.Tyr219=
• NP_001138388.1:p.Tyr193=
• NP_001138389.1:p.Tyr308=
• NP_001138390.1:p.Tyr193=
• NP_001138391.1:p.Tyr219=
• NP_001307583.1:p.Tyr80=
• NP_001307587.1:p.Tyr308=
• NP_075258.1:p.Tyr308=
• NP_075259.4:p.Tyr308=
• NP_075259.4:p.Tyr308=
• NP_075418.1:p.Tyr219=
• LRG_994t1:c.924C>T
• LRG_994t2:c.924C>T
• LRG_994:g.83465C>T
• LRG_994p1:p.Tyr308=
• LRG_994p2:p.Tyr308=
• NC_000010.10:g.123279508G>A
• NM_000141.4:c.924C>T
• NM_022970.3:c.924C>T
• NR_073009.2:n.1212C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs775459922

NCBI 1000 Genomes Browser:

rs775459922

Molecular consequence:

• NM_001144914.1:c.749-4675C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_073009.2:n.1212C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000141.5:c.924C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144913.1:c.924C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144915.2:c.657C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144916.2:c.579C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144917.2:c.924C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144918.2:c.579C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144919.2:c.657C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320654.2:c.240C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320658.2:c.924C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022969.1:c.924C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022970.4:c.924C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_023029.2:c.657C>T - synonymous variant - [Sequence Ontology: SO:0001819]