ClinVar

NM_020975.6(RET):c.166C>A (p.Leu56Met)

Gene:

RET:ret proto-oncogene [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.21

Genomic location:

• Chr10: 43100551 (on Assembly GRCh38)
• Chr10: 43595999 (on Assembly GRCh37)

Preferred name:

NM_020975.6(RET):c.166C>A (p.Leu56Met)

HGVS:

• NC_000010.11:g.43100551C>A
• NG_007489.1:g.28483C>A
• NM_000323.2:c.166C>A
• NM_001406743.1:c.166C>A
• NM_001406744.1:c.166C>A
• NM_001406759.1:c.166C>A
• NM_001406760.1:c.166C>A
• NM_001406761.1:c.166C>A
• NM_001406762.1:c.166C>A
• NM_001406763.1:c.166C>A
• NM_001406764.1:c.166C>A
• NM_001406765.1:c.166C>A
• NM_001406766.1:c.166C>A
• NM_001406767.1:c.166C>A
• NM_001406768.1:c.166C>A
• NM_001406769.1:c.166C>A
• NM_001406770.1:c.166C>A
• NM_001406771.1:c.166C>A
• NM_001406772.1:c.166C>A
• NM_001406773.1:c.166C>A
• NM_001406774.1:c.166C>A
• NM_001406775.1:c.166C>A
• NM_001406776.1:c.166C>A
• NM_001406777.1:c.166C>A
• NM_001406778.1:c.166C>A
• NM_001406779.1:c.166C>A
• NM_001406780.1:c.166C>A
• NM_001406781.1:c.166C>A
• NM_001406782.1:c.166C>A
• NM_001406783.1:c.166C>A
• NM_001406785.1:c.166C>A
• NM_001406786.1:c.166C>A
• NM_001406787.1:c.166C>A
• NM_001406788.1:c.166C>A
• NM_001406789.1:c.166C>A
• NM_001406790.1:c.166C>A
• NM_001406791.1:c.166C>A
• NM_020629.2:c.166C>A
• NM_020630.7:c.166C>A
• NM_020975.6:c.166C>AMANE SELECT
• NP_000314.1:p.Leu56Met
• NP_001393672.1:p.Leu56Met
• NP_001393673.1:p.Leu56Met
• NP_001393688.1:p.Leu56Met
• NP_001393689.1:p.Leu56Met
• NP_001393690.1:p.Leu56Met
• NP_001393691.1:p.Leu56Met
• NP_001393692.1:p.Leu56Met
• NP_001393693.1:p.Leu56Met
• NP_001393694.1:p.Leu56Met
• NP_001393695.1:p.Leu56Met
• NP_001393696.1:p.Leu56Met
• NP_001393697.1:p.Leu56Met
• NP_001393698.1:p.Leu56Met
• NP_001393699.1:p.Leu56Met
• NP_001393700.1:p.Leu56Met
• NP_001393701.1:p.Leu56Met
• NP_001393702.1:p.Leu56Met
• NP_001393703.1:p.Leu56Met
• NP_001393704.1:p.Leu56Met
• NP_001393705.1:p.Leu56Met
• NP_001393706.1:p.Leu56Met
• NP_001393707.1:p.Leu56Met
• NP_001393708.1:p.Leu56Met
• NP_001393709.1:p.Leu56Met
• NP_001393710.1:p.Leu56Met
• NP_001393711.1:p.Leu56Met
• NP_001393712.1:p.Leu56Met
• NP_001393714.1:p.Leu56Met
• NP_001393715.1:p.Leu56Met
• NP_001393716.1:p.Leu56Met
• NP_001393717.1:p.Leu56Met
• NP_001393718.1:p.Leu56Met
• NP_001393719.1:p.Leu56Met
• NP_001393720.1:p.Leu56Met
• NP_065680.1:p.Leu56Met
• NP_065681.1:p.Leu56Met
• NP_065681.1:p.Leu56Met
• NP_065681.1:p.Leu56Met
• NP_066124.1:p.Leu56Met
• NP_066124.1:p.Leu56Met
• LRG_518t1:c.166C>A
• LRG_518t2:c.166C>A
• LRG_518:g.28483C>A
• LRG_518p1:p.Leu56Met
• LRG_518p2:p.Leu56Met
• NC_000010.10:g.43595999C>A
• NM_020630.4:c.166C>A
• NM_020630.6:c.166C>A
• NM_020975.4:c.166C>A
• NM_020975.4:c.166C>A
• NM_020975.5:c.166C>A
• p.L56M

This HGVS expression did not pass validation

Protein change:

L56M

Links:

dbSNP: rs145633958

NCBI 1000 Genomes Browser:

rs145633958

Molecular consequence:

• NM_000323.2:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406743.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406744.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406759.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406760.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406761.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406762.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406763.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406764.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406765.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406766.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406767.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406768.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406769.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406770.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406771.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406772.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406773.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406774.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406775.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406776.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406777.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406778.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406779.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406780.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406781.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406782.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406783.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406785.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406786.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406787.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406788.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406789.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406790.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406791.1:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020629.2:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020630.7:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020975.6:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1