ClinVar

NM_006306.4(SMC1A):c.1364T>C (p.Leu455Pro)

Gene:

SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.22

Genomic location:

• ChrX: 53409243 (on Assembly GRCh38)
• ChrX: 53436174 (on Assembly GRCh37)

Preferred name:

NM_006306.4(SMC1A):c.1364T>C (p.Leu455Pro)

HGVS:

• NC_000023.11:g.53409243A>G
• NG_006988.2:g.18428T>C
• NM_001281463.1:c.1298T>C
• NM_006306.4:c.1364T>CMANE SELECT
• NP_001268392.1:p.Leu433Pro
• NP_006297.2:p.Leu455Pro
• LRG_773t1:c.1298T>C
• LRG_773:g.18428T>C
• LRG_773p1:p.Leu433Pro
• NC_000023.10:g.53436174A>G

This HGVS expression did not pass validation

Protein change:

L433P

Links:

dbSNP: rs886044858

NCBI 1000 Genomes Browser:

rs886044858

Molecular consequence:

• NM_001281463.1:c.1298T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_006306.4:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1