ClinVar

NM_152594.3(SPRED1):c.684+50A>T

Gene:

SPRED1:sprouty related EVH1 domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q14

Genomic location:

• Chr15: 38349573 (on Assembly GRCh38)
• Chr15: 38641774 (on Assembly GRCh37)

Preferred name:

NM_152594.3(SPRED1):c.684+50A>T

HGVS:

• NC_000015.10:g.38349573A>T
• NG_008980.1:g.101723A>T
• NM_152594.2:c.684+50A>T
• NM_152594.3:c.684+50A>TMANE SELECT
• NC_000015.9:g.38641774A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200338097

NCBI 1000 Genomes Browser:

rs200338097

Molecular consequence:

• NM_152594.3:c.684+50A>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1