ClinVar

NM_013322.3(SNX10):c.178C>T (p.Leu60=)

Gene:

SNX10:sorting nexin 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p15.2

Genomic location:

• Chr7: 26364601 (on Assembly GRCh38)
• Chr7: 26404221 (on Assembly GRCh37)

Preferred name:

NM_013322.3(SNX10):c.178C>T (p.Leu60=)

HGVS:

• NC_000007.14:g.26364601C>T
• NG_033902.1:g.77707C>T
• NM_001199835.1:c.178C>T
• NM_001199837.3:c.169C>T
• NM_001199838.2:c.-41+99C>T
• NM_001318198.1:c.256C>T
• NM_001318199.3:c.178C>T
• NM_001362753.1:c.256C>T
• NM_001362754.1:c.256C>T
• NM_013322.3:c.178C>TMANE SELECT
• NP_001186764.1:p.Leu60=
• NP_001186766.1:p.Leu57=
• NP_001305127.1:p.Leu86=
• NP_001305128.1:p.Leu60=
• NP_001349682.1:p.Leu86=
• NP_001349683.1:p.Leu86=
• NP_037454.2:p.Leu60=
• NC_000007.13:g.26404221C>T
• NR_037670.1:n.514C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001199838.2:c.-41+99C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199835.1:c.178C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001199837.3:c.169C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318198.1:c.256C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318199.3:c.178C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362753.1:c.256C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362754.1:c.256C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_013322.3:c.178C>T - synonymous variant - [Sequence Ontology: SO:0001819]