ClinVar

NM_022464.5(SIL1):c.1215G>T (p.Leu405=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.2

Genomic location:

• Chr5: 138947288 (on Assembly GRCh38)
• Chr5: 138282977 (on Assembly GRCh37)

Preferred name:

NM_022464.5(SIL1):c.1215G>T (p.Leu405=)

HGVS:

• NC_000005.10:g.138947288C>A
• NG_008112.2:g.256089G>T
• NM_001037633.2:c.1215G>T
• NM_022464.5:c.1215G>TMANE SELECT
• NP_001032722.1:p.Leu405=
• NP_071909.1:p.Leu405=
• NC_000005.9:g.138282977C>A
• NG_008112.1:g.256089G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs794727004

NCBI 1000 Genomes Browser:

rs794727004

Molecular consequence:

• NM_001037633.2:c.1215G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022464.5:c.1215G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1