ClinVar

NM_003793.4(CTSF):c.1133A>G (p.Asn378Ser)

Gene:

CTSF:cathepsin F [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 66564919 (on Assembly GRCh38)
• Chr11: 66332390 (on Assembly GRCh37)

Preferred name:

NM_003793.4(CTSF):c.1133A>G (p.Asn378Ser)

HGVS:

• NC_000011.10:g.66564919T>C
• NG_013304.2:g.23000T>C
• NG_032973.1:g.8658A>G
• NM_003793.4:c.1133A>GMANE SELECT
• NP_003784.2:p.Asn378Ser
• NC_000011.9:g.66332390T>C
• NM_003793.3:c.1133A>G

This HGVS expression did not pass validation

Protein change:

N378S

Links:

dbSNP: rs148080813

NCBI 1000 Genomes Browser:

rs148080813

Molecular consequence:

• NM_003793.4:c.1133A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3