ClinVar

NM_001349798.2(FBXW7):c.1513C>A (p.Arg505Ser)

Gene:

FBXW7:F-box and WD repeat domain containing 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q31.3

Genomic location:

• Chr4: 152326137 (on Assembly GRCh38)
• Chr4: 153247289 (on Assembly GRCh37)

Preferred name:

NM_001349798.2(FBXW7):c.1513C>A (p.Arg505Ser)

HGVS:

• NC_000004.12:g.152326137G>T
• NG_029466.2:g.215737C>A
• NM_001013415.2:c.1159C>A
• NM_001349798.2:c.1513C>AMANE SELECT
• NM_018315.5:c.1273C>A
• NM_033632.3:c.1513C>A
• NP_001013433.1:p.Arg387Ser
• NP_001336727.1:p.Arg505Ser
• NP_060785.2:p.Arg425Ser
• NP_361014.1:p.Arg505Ser
• LRG_1141t1:c.1513C>A
• LRG_1141t2:c.1273C>A
• LRG_1141t3:c.1159C>A
• LRG_1141:g.215737C>A
• LRG_1141p1:p.Arg505Ser
• LRG_1141p2:p.Arg425Ser
• LRG_1141p3:p.Arg387Ser
• NC_000004.11:g.153247289G>T
• NG_029466.1:g.213884C>A

This HGVS expression did not pass validation

Protein change:

R387S

Links:

dbSNP: rs149680468

NCBI 1000 Genomes Browser:

rs149680468

Molecular consequence:

• NM_001013415.2:c.1159C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349798.2:c.1513C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018315.5:c.1273C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033632.3:c.1513C>A - missense variant - [Sequence Ontology: SO:0001583]