ClinVar

NM_018116.4(MSTO1):c.571C>T (p.Arg191Trp)

Gene:

MSTO1:misato mitochondrial distribution and morphology regulator 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155611993 (on Assembly GRCh38)
• Chr1: 155581784 (on Assembly GRCh37)

Preferred name:

NM_018116.4(MSTO1):c.571C>T (p.Arg191Trp)

HGVS:

• NC_000001.11:g.155611993C>T
• NM_001256532.1:c.571C>T
• NM_001256533.1:c.571C>T
• NM_001350772.1:c.571C>T
• NM_001350773.1:c.571C>T
• NM_001350774.1:c.571C>T
• NM_001350775.1:c.571C>T
• NM_001350776.1:c.406C>T
• NM_001350777.1:c.40C>T
• NM_001350778.1:c.40C>T
• NM_001350779.1:c.40C>T
• NM_001350780.1:c.37C>T
• NM_001350781.1:c.37C>T
• NM_001350782.1:c.37C>T
• NM_001350783.1:c.37C>T
• NM_001350784.1:c.28C>T
• NM_001350785.1:c.28C>T
• NM_001350786.1:c.37C>T
• NM_001350787.1:c.28C>T
• NM_001350788.1:c.37C>T
• NM_001350789.1:c.28C>T
• NM_018116.4:c.571C>TMANE SELECT
• NP_001243461.1:p.Arg191Trp
• NP_001243462.1:p.Arg191Trp
• NP_001337701.1:p.Arg191Trp
• NP_001337702.1:p.Arg191Trp
• NP_001337703.1:p.Arg191Trp
• NP_001337704.1:p.Arg191Trp
• NP_001337705.1:p.Arg136Trp
• NP_001337706.1:p.Arg14Trp
• NP_001337707.1:p.Arg14Trp
• NP_001337708.1:p.Arg14Trp
• NP_001337709.1:p.Arg13Trp
• NP_001337710.1:p.Arg13Trp
• NP_001337711.1:p.Arg13Trp
• NP_001337712.1:p.Arg13Trp
• NP_001337713.1:p.Arg10Trp
• NP_001337714.1:p.Arg10Trp
• NP_001337715.1:p.Arg13Trp
• NP_001337716.1:p.Arg10Trp
• NP_001337717.1:p.Arg13Trp
• NP_001337718.1:p.Arg10Trp
• NP_060586.2:p.Arg191Trp
• NC_000001.10:g.155581784C>T
• NM_018116.3:c.571C>T
• NR_046292.1:n.772C>T
• NR_046293.1:n.714C>T
• NR_046294.1:n.636C>T
• NR_046295.1:n.574C>T
• NR_146907.1:n.650C>T
• NR_146908.1:n.650C>T

This HGVS expression did not pass validation

Protein change:

R10W

Links:

dbSNP: rs777651549

NCBI 1000 Genomes Browser:

rs777651549

Molecular consequence:

• NM_001256532.1:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256533.1:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350772.1:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350773.1:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350774.1:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350775.1:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350776.1:c.406C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350777.1:c.40C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350778.1:c.40C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350779.1:c.40C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350780.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350781.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350782.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350783.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350784.1:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350785.1:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350786.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350787.1:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350788.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350789.1:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018116.4:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_046292.1:n.772C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_046293.1:n.714C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_046294.1:n.636C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_046295.1:n.574C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146907.1:n.650C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146908.1:n.650C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1