ClinVar

NM_022464.5(SIL1):c.1205del (p.Gly402fs)

Gene:

SIL1:SIL1 nucleotide exchange factor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5q31.2

Genomic location:

• Chr5: 138947298 (on Assembly GRCh38)
• Chr5: 138282987 (on Assembly GRCh37)

Preferred name:

NM_022464.5(SIL1):c.1205del (p.Gly402fs)

HGVS:

• NC_000005.10:g.138947300del
• NG_008112.2:g.256079del
• NM_001037633.2:c.1205del
• NM_022464.5:c.1205delMANE SELECT
• NP_001032722.1:p.Gly402fs
• NP_071909.1:p.Gly402fs
• NC_000005.9:g.138282989del
• NG_008112.1:g.256079del

This HGVS expression did not pass validation

Protein change:

G402fs

Links:

dbSNP: rs886043087

NCBI 1000 Genomes Browser:

rs886043087

Molecular consequence:

• NM_001037633.2:c.1205del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_022464.5:c.1205del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

1