ClinVar

NM_001382508.1(DROSHA):c.1055A>T (p.Asn352Ile)

Gene:

DROSHA:drosha ribonuclease III [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.3

Genomic location:

• Chr5: 31515457 (on Assembly GRCh38)
• Chr5: 31515564 (on Assembly GRCh37)

Preferred name:

NM_001382508.1(DROSHA):c.1055A>T (p.Asn352Ile)

HGVS:

• NC_000005.10:g.31515457T>A
• NG_051574.1:g.21719A>T
• NM_001100412.2:c.948-238A>T
• NM_001382508.1:c.1055A>TMANE SELECT
• NM_013235.5:c.1055A>T
• NP_001369437.1:p.Asn352Ile
• NP_037367.3:p.Asn352Ile
• NC_000005.9:g.31515564T>A
• NM_013235.4:c.1055A>T

This HGVS expression did not pass validation

Protein change:

N352I

Molecular consequence:

• NM_001100412.2:c.948-238A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382508.1:c.1055A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_013235.5:c.1055A>T - missense variant - [Sequence Ontology: SO:0001583]