ClinVar

NM_001139456.2(SVOPL):c.500C>T (p.Thr167Met)

Gene:

SVOPL:SVOP like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

• Chr7: 138656482 (on Assembly GRCh38)
• Chr7: 138341227 (on Assembly GRCh37)

Preferred name:

NM_001139456.2(SVOPL):c.500C>T (p.Thr167Met)

HGVS:

• NC_000007.14:g.138656482G>A
• NG_051552.1:g.50066C>T
• NM_001139456.2:c.500C>TMANE SELECT
• NM_001331192.1:c.227C>T
• NM_174959.3:c.44C>T
• NP_001132928.1:p.Thr167Met
• NP_001318121.1:p.Thr76Met
• NP_777619.1:p.Thr15Met
• LRG_1103t1:c.500C>T
• LRG_1103t2:c.44C>T
• LRG_1103:g.50066C>T
• LRG_1103p1:p.Thr167Met
• LRG_1103p2:p.Thr15Met
• NC_000007.13:g.138341227G>A
• NM_001139456.1:c.500C>T

This HGVS expression did not pass validation

Protein change:

T15M

Molecular consequence:

• NM_001139456.2:c.500C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001331192.1:c.227C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_174959.3:c.44C>T - missense variant - [Sequence Ontology: SO:0001583]