ClinVar

NM_001379081.2(FREM1):c.4626C>T (p.Leu1542=)

Gene:

FREM1:FRAS1 related extracellular matrix 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p22.3

Genomic location:

• Chr9: 14776020 (on Assembly GRCh38)
• Chr9: 14776018 (on Assembly GRCh37)

Preferred name:

NM_001379081.2(FREM1):c.4626C>T (p.Leu1542=)

HGVS:

• NC_000009.12:g.14776020G>A
• NG_017005.2:g.139217C>T
• NM_001177704.3:c.234C>T
• NM_001370058.2:c.234C>T
• NM_001370061.2:c.234C>T
• NM_001379081.2:c.4626C>TMANE SELECT
• NM_144966.7:c.4626C>T
• NP_001171175.1:p.Leu78=
• NP_001356987.1:p.Leu78=
• NP_001356990.1:p.Leu78=
• NP_001366010.1:p.Leu1542=
• NP_659403.4:p.Leu1542=
• NP_659403.4:p.Leu1542=
• NC_000009.11:g.14776018G>A
• NC_000009.11:g.14776018G>A
• NM_144966.5:c.4626C>T
• NR_163239.2:n.5434C>T
• NR_163242.2:n.743C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs367674769

Molecular consequence:

• NR_163239.2:n.5434C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_163242.2:n.743C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001177704.3:c.234C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370058.2:c.234C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370061.2:c.234C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379081.2:c.4626C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_144966.7:c.4626C>T - synonymous variant - [Sequence Ontology: SO:0001819]