ClinVar

NM_001304990.2(SPRY3):c.55C>T (p.Arg19Cys)

Gene:

SPRY3:sprouty RTK signaling antagonist 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 155773926 (on Assembly GRCh38)
• ChrY: 56960446 (on Assembly GRCh38)
• ChrY: 59106594 (on Assembly GRCh37)
• ChrX: 155003588 (on Assembly GRCh37)

Preferred name:

NM_001304990.2(SPRY3):c.55C>T (p.Arg19Cys)

HGVS:

• NC_000023.11:g.155773926C>T
• NC_000024.10:g.56960446C>T
• NM_001304990.2:c.55C>TMANE SELECT
• NM_001394353.1:c.55C>T
• NM_001394354.1:c.55C>T
• NM_001394355.1:c.55C>T
• NM_005840.4:c.55C>T
• NP_001291919.1:p.Arg19Cys
• NP_001381282.1:p.Arg19Cys
• NP_001381283.1:p.Arg19Cys
• NP_001381284.1:p.Arg19Cys
• NP_005831.1:p.Arg19Cys
• NC_000023.10:g.155003588C>T
• NC_000024.9:g.59106594C>T

This HGVS expression did not pass validation

Protein change:

R19C

Links:

dbSNP: rs779201129

NCBI 1000 Genomes Browser:

rs779201129

Molecular consequence:

• NM_001304990.2:c.55C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394353.1:c.55C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394354.1:c.55C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394355.1:c.55C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005840.4:c.55C>T - missense variant - [Sequence Ontology: SO:0001583]