ClinVar

NM_152598.4(MARCHF10):c.406T>C (p.Leu136=)

Gene:

MARCHF10:membrane associated ring-CH-type finger 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q23.2

Genomic location:

• Chr17: 62744505 (on Assembly GRCh38)
• Chr17: 60821866 (on Assembly GRCh37)

Preferred name:

NM_152598.4(MARCHF10):c.406T>C (p.Leu136=)

HGVS:

• NC_000017.11:g.62744505A>G
• NM_001100875.3:c.406T>C
• NM_001288779.2:c.520T>C
• NM_001288780.2:c.403T>C
• NM_152598.4:c.406T>CMANE SELECT
• NP_001094345.1:p.Leu136=
• NP_001275708.1:p.Leu174=
• NP_001275709.1:p.Leu135=
• NP_689811.2:p.Leu136=
• NC_000017.10:g.60821866A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs2091633688

NCBI 1000 Genomes Browser:

rs2091633688

Molecular consequence:

• NM_001100875.3:c.406T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288779.2:c.520T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288780.2:c.403T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_152598.4:c.406T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1